2,400 results match your criteria Limb-Girdle Muscular Dystrophy


Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.

Orphanet J Rare Dis 2019 Feb 14;14(1):43. Epub 2019 Feb 14.

Department of Neurology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing, 100034, China.

Background: Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD genes. Knowledge about the clinical and genetic features of sarcoglycanopathies in Chinese patients is limited. The aims of this study were to investigate in detail the clinical manifestations, sarcoglycan expression, and gene mutations in Chinese patients with sarcoglycanopathies and to identify possible correlations between them. Read More

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http://dx.doi.org/10.1186/s13023-019-1021-9DOI Listing
February 2019
1 Read

Frequency of reported pain in adult males with muscular dystrophy.

PLoS One 2019 14;14(2):e0212437. Epub 2019 Feb 14.

Musculoskeletal Science & Sports Medicine Research Centre, School of Healthcare Science, Faculty of Science and Engineering, Manchester Metropolitan University, Manchester, United Kingdom.

Introduction: The purpose of this study was to present and compare pain between adult males with Duchenne (DMD), Becker's (BMD), Limb-Girdle (LGMD) Facioscapulohumeral (FSHD) forms of Muscular Dystrophy (MD), and healthy controls (CTRL), using three different methods of assessment.

Methods: Pain was assessed using 1) a whole body visual analogue scale (VAS) of pain, 2) a generalised body map and 3) a localised body map.

Results: All types of MD reported more VAS pain than CTRL, with 97% of all MD participants reporting pain; however, no differences were reported between types of MD. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212437PLOS
February 2019
1 Read

Homozygous Nonsense Mutation (p.Arg97) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report.

Front Genet 2018 23;9:727. Epub 2019 Jan 23.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Limb-girdle muscular dystrophy (LGMD) is an increasingly heterogeneous category of inherited muscle diseases, mainly affecting the muscles of shoulder areas and the hip, segregating in both autosomal recessive and dominant manner. To-date, thirty-one loci have been identified for LGMD including seven autosomal dominant (LGMD type 1) and twenty four autosomal recessive (LGMD type 2) inherited loci. The present report describes a consanguineous family segregating LGMD2F in an autosomal recessive pattern. Read More

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http://dx.doi.org/10.3389/fgene.2018.00727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354032PMC
January 2019
1 Read

[Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Feb;36(2):136-139

School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.

Objective: To analyze variant of SGCA gene in a Chinese pedigree affected with limb-girdle muscular dystrophy type 2D with whole exome sequencing (WGS).

Methods: Multiplex ligation-dependent probe amplification (MLPA) was employed to detect large fragment deletion or duplication of the DMD gene. FastTarget next generation sequencing was used to detect variants of the DMD gene, and the result was verified by Sanger sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.02.010DOI Listing
February 2019
1 Read

Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.

Bosn J Basic Med Sci 2019 Jan 16. Epub 2019 Jan 16.

Department of Neurology, Hainan Branch of Chinese PLA General Hospital, Sanya, Hainan Province, China.

Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene are rare. To date, 72 cases with GMPPB gene mutations have been reported. Herein, we reported a case of a 29-year-old Chinese male presenting with limb-girdle muscular dystrophy (LGMD) who was found to have two heterozygous GMPPB mutations. Read More

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http://dx.doi.org/10.17305/bjbms.2019.3992DOI Listing
January 2019

Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.

J Neurol 2019 Feb 2;266(2):498-506. Epub 2019 Jan 2.

Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.

Limb-girdle muscular dystrophies (LGMD) are a group of clinically and genetically heterogeneous diseases characterized by weakness and wasting of the pelvic and shoulder girdle muscles. Twenty-four recessive LGMD (types R1-R24) and five dominant LGMD (types D1-D5) have been identified with characterization of mutations in various genes. To date, LGMD D3 (previously known as LGMD1G) has been characterized in only two families with Brazilian or Uruguayan origin. Read More

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http://link.springer.com/10.1007/s00415-018-9165-4
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http://dx.doi.org/10.1007/s00415-018-9165-4DOI Listing
February 2019
2 Reads

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.

Neurol Neuroimmunol Neuroinflamm 2019 Jan 12;6(1):e523. Epub 2018 Dec 12.

National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.

Objective: To determine the prevalence and clinical features of anti-HMGCR myopathy among patients with presumed limb-girdle muscular dystrophy (LGMD) in whom genetic testing has failed to elucidate causative mutations.

Methods: Patients with presumed LGMD and unrevealing genetic testing were selected based on a few clinico-pathologic features and tested for anti-HMGCR autoantibodies (n = 11). These clinico-pathologic features are peak creatine kinase (CK) greater than 1,000 IU/L and at least 3 of the following features: (1) limb-girdle pattern of weakness, (2) selective involvement of posterior thigh on clinical examination or muscle imaging, (3) dystrophic changes on muscle biopsy, and (4) no family history of muscular dystrophy. Read More

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http://dx.doi.org/10.1212/NXI.0000000000000523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292490PMC
January 2019
11 Reads

[Coincidence of hereditary motor and sensory neuropathy type 1A and limb lumbo-muscular dystrophy type 2A].

Zh Nevrol Psikhiatr Im S S Korsakova 2018 ;118(11):72-76

FSBI Research Centre for Medical Genetics, Moskvorechie 1, 115522 Moscow, Russia.

A rare case of two neuromuscular disorders in a 29-year-old female is presented: autosomal dominant hereditary motor and sensory neuropathy type 1A (HMSN1A) due to PMP22 duplication and autosomal recessive limb lumbo-muscular dystrophy type 2A (LGMD2A) produced by CAPN3 common mutation c.550delA and novel c.575C>G (p. Read More

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http://dx.doi.org/10.17116/jnevro201811811172DOI Listing
January 2018
1 Read

[Clinical and genetic features of limb-girdle muscular dystrophy type 1B: a case report].

Zhongguo Dang Dai Er Ke Za Zhi 2018 Dec;20(12):1015-1019

Department of Pediatrics, First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.

This article reports a case of limb-girdle muscular dystrophy type 1B (LGMD1B) caused by a novel splicing heterozygous mutation in the LMNA gene. The proband presented with progressive aggravation of weakness in walking. There was no atrophy of the scapular muscles and the lower-extremity proximal muscles, with normal muscle tension of the extremities, grade 4 muscle strength in the upper and lower extremities, and positive Gower sign. Read More

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December 2018
1 Read

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Ann Clin Transl Neurol 2018 Dec 1;5(12):1574-1587. Epub 2018 Dec 1.

Emory University Department of Human Genetics Atlanta Georgia 30322.

Objective: Limb-girdle muscular dystrophies (LGMDs), one of the most heterogeneous neuromuscular disorders (NMDs), involves predominantly proximal-muscle weakness with >30 genes associated with different subtypes. The clinical-genetic overlap among subtypes and with other NMDs complicate disease-subtype identification lengthening diagnostic process, increases overall costs hindering treatment/clinical-trial recruitment. Currently seven LGMD clinical trials are active but still no gene-therapy-related treatment is available. Read More

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http://dx.doi.org/10.1002/acn3.649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292381PMC
December 2018
2 Reads

Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies.

Curr Stem Cell Rep 2018 4;4(4):299-309. Epub 2018 Oct 4.

3Houston Methodist Neurological Institute and Research Institute, 6670 Bertner Ave R11-117, Houston, TX USA.

Purpose Of Review: Muscular dystrophies (MDs) are a spectrum of muscle disorders, which are caused by a number of gene mutations. The studies of MDs are limited due to lack of appropriate models, except for Duchenne muscular dystrophy (DMD), myotonic dystrophy type 1 (DM1), facioscapulohumeral muscular dystrophy (FSHD), and certain type of limb-girdle muscular dystrophy (LGMD). Human induced pluripotent stem cell (iPSC) technologies are emerging to offer a useful model for mechanistic studies, drug discovery, and cell-based therapy to supplement in vivo animal models. Read More

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http://dx.doi.org/10.1007/s40778-018-0145-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244555PMC
October 2018
1 Read

Prevalence, pathological mechanisms, and genetic basis of limb-girdle muscular dystrophies: A review.

J Cell Physiol 2018 Dec 7. Epub 2018 Dec 7.

Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Science, Mashhad, Iran.

Limb-girdle muscular dystrophies (LGMDs) are a highly heterogeneous group of neuromuscular disorders that are associated with weakness and wasting of muscles in legs and arms. Signs and symptoms may begin at any age and usually worsen by time. LGMDs are autosomal disorders with different types and their prevalence is not the same in different areas. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jcp.27907
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http://dx.doi.org/10.1002/jcp.27907DOI Listing
December 2018
13 Reads
3.839 Impact Factor

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

J Neurol 2019 Feb 4;266(2):353-360. Epub 2018 Dec 4.

Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

Objective: To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy.

Methods: Whole exome sequencing was performed for adult-onset neuromuscular disease patients with no molecular diagnosis. Patients with PYROXD1 variants underwent clinical characterization, lower limb muscle MRI, muscle biopsy and spirometry. Read More

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http://link.springer.com/10.1007/s00415-018-9137-8
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http://dx.doi.org/10.1007/s00415-018-9137-8DOI Listing
February 2019
14 Reads
3.380 Impact Factor

Divergent Features of Mitochondrial Deficiencies in LGMD2A Associated With Novel Calpain-3 Mutations.

J Neuropathol Exp Neurol 2019 Jan;78(1):88-98

Neuromuscular Diagnostic Laboratory, Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

Limb girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by progressive muscle weakness and wasting. LGMD2A is caused by mutations in the calpain-3 gene (CAPN3) that encodes a Ca2+-dependent cysteine protease predominantly expressed in the skeletal muscle. Underlying pathological mechanisms have not yet been fully elucidated. Read More

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http://dx.doi.org/10.1093/jnen/nly113DOI Listing
January 2019
3 Reads
3.797 Impact Factor

High-throughput data-driven analysis of myofiber composition reveals muscle-specific disease and age-associated patterns.

FASEB J 2018 Nov 28:fj201801714R. Epub 2018 Nov 28.

Molecular Epidemiology, Leiden University Medical Centre, Leiden, The Netherlands.

Contractile properties of myofibers are dictated by the abundance of myosin heavy chain (MyHC) isoforms. MyHC composition designates muscle function, and its alterations could unravel differential muscle involvement in muscular dystrophies and aging. Current analyses are limited to visual assessments in which myofibers expressing multiple MyHC isoforms are prone to misclassification. Read More

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http://dx.doi.org/10.1096/fj.201801714RDOI Listing
November 2018
1 Read

Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.

Mutat Res 2018 Oct - Dec;778:45-50. Epub 2018 Sep 12.

Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, PR China. Electronic address:

Protein O-mannosyltransferase 1 (POMT1) is a critical enzyme participating in the first step of protein O-mannosylation. Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated with defective alpha-dystroglycan glycosylation, later termed muscular dystrophy-dystroglycanopathies (MDDGs). MDDGs are characterized by a broad phenotypic spectrum of congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy, accompanied by variable degrees of intellectual disability, brain defects, and ocular abnormalities. Read More

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http://dx.doi.org/10.1016/j.mrrev.2018.09.002DOI Listing
September 2018
9 Reads

Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.

J Cell Mol Med 2019 Feb 18;23(2):811-818. Epub 2018 Nov 18.

Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China.

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 (MDDGC9) is the rarest type of autosomal recessive muscular dystrophies. MDDGC9 is manifested with an early onset in childhood. Patients with MDDGC9 usually identified with defective glycosylation of DAG1, hence it is known as "dystroglycanopathies". Read More

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http://dx.doi.org/10.1111/jcmm.13979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349151PMC
February 2019
10 Reads

Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review.

J Am Coll Cardiol 2018 Nov;72(20):2485-2506

Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.

Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or disease-specific metabolic indicators. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07351097183858
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http://dx.doi.org/10.1016/j.jacc.2018.08.2182DOI Listing
November 2018
14 Reads

Toxic Myopathy due to Antidopaminergic Medication Without Neuroleptic Malignant Syndrome.

J Clin Neuromuscul Dis 2018 Dec;20(2):94-98

Departments of Pediatrics and.

Severe recurrent proximal muscle weakness without neuroleptic malignant syndrome secondary to antidopaminergic medication has rarely been reported. We report a 29-year-old man with history of obsessive compulsive disorder and Tourette syndrome who presented with 2 months of worsening dyspnea 3 weeks after starting ziprasidone 40 mg daily that required mechanical ventilation. A year before, after an increased risperidone dose from 0. Read More

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http://Insights.ovid.com/crossref?an=00131402-201812000-0000
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http://dx.doi.org/10.1097/CND.0000000000000233DOI Listing
December 2018
24 Reads

Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy.

Mol Ther Nucleic Acids 2018 Dec 11;13:596-604. Epub 2018 Oct 11.

Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada; The Friends of Garrett Cumming Research & Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB T6G 2H7, Canada. Electronic address:

Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing. Some patients with DYSF deletion mutations exhibit mild symptoms, suggesting some regions of DYSF can be removed without significantly impacting protein function. Read More

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http://dx.doi.org/10.1016/j.omtn.2018.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234522PMC
December 2018
1 Read

Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene.

Neuromuscul Disord 2018 Dec 9;28(12):1003-1005. Epub 2018 Oct 9.

Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Avenida Professor Egas Moniz, 1649-035 Lisbon, Portugal; Faculty of Medicine, Institute of Physiology Unit, Instituto de Medicina Molecular, Universidade de Lisboa, Avenida Professor Egas Moniz, 1649-035 Lisbon, Portugal.

Limb-girdle muscular dystrophy 2A (LGMD2A) or calpainopathy is the most common type of LGMD worldwide, representing about 30-40% of all described cases. Nevertheless, its prevalence in sub-Saharan African countries is unknown. We report two young siblings from Guinea-Bissau with recessive calpainopathy due to novel null homozygous c. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.09.009DOI Listing
December 2018
2 Reads

Cervical hyperextension deformity following sagittal balance correction in a patient with Congenital Limb Girdle Myopathy: Surgical technique and review of the literature.

World Neurosurg 2018 Nov 8. Epub 2018 Nov 8.

- Neurosurgery department, Hotel Dieu de France Hospital Beirut, Lebanon. Electronic address:

Background: There is no gold standard surgical treatment for cervical hyperextension deformity especially in case of muscular dystrophy. Special considerations and caution should be taken as they carry high risk of early mortality and spinal cord injury. Only a few case reports are available in the literature. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.10.211DOI Listing
November 2018
1 Read

Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic Mutations.

Front Physiol 2018 15;9:1332. Epub 2018 Oct 15.

Department of Cell and Developmental Biology, University College London, London, United Kingdom.

Laminopathies are a clinically heterogeneous group of disorders caused by mutations in . The main proteins encoded by are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the inner nuclear membrane. Laminopathies show striking tissue specificity, with subtypes affecting striated muscle, peripheral nerve, and adipose tissue, while others cause multisystem disease with accelerated aging. Read More

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https://www.frontiersin.org/article/10.3389/fphys.2018.01332
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http://dx.doi.org/10.3389/fphys.2018.01332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201196PMC
October 2018
7 Reads

Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B.

J Neurol Sci 2018 Dec 16;395:169-171. Epub 2018 Oct 16.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X183042
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http://dx.doi.org/10.1016/j.jns.2018.10.015DOI Listing
December 2018
13 Reads
2.474 Impact Factor

New DEStiny Revealed.

Circulation 2018 Sep;138(12):1267-1271

Bluhm Cardiovascular Institute (G.A., B.P.K., S.J.S., E.M.M.), Northwestern University Feinberg School of Medicine, Chicago IL.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.035577DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260957PMC
September 2018
4 Reads

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Physiol Genomics 2018 Nov 31;50(11):929-939. Epub 2018 Aug 31.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine , Gainesville, Florida.

Next-generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to the pace of discoveries, gaps have widened for some diseases between genetic and pathophysiological knowledge. We recruited and analyzed 16 families with limb-girdle muscular dystrophy (LGMD) of Arab descent from Saudi Arabia and Sudan who did not have confirmed genetic diagnoses. The analysis included both traditional and next-generation sequencing approaches. Read More

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http://dx.doi.org/10.1152/physiolgenomics.00036.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293114PMC
November 2018
7 Reads
1 Citation
2.374 Impact Factor

Small mutation screening in the DMD gene by whole exome sequencing of an argentine Duchenne/Becker muscular dystrophies cohort.

Neuromuscul Disord 2018 Dec 6;28(12):986-995. Epub 2018 Sep 6.

Departamento de Microbiología, Inmunología, Biotecnología y Genética, Cátedra de Genética, Laboratorio de Distrofinopatías, Universidad de Buenos Aires, Laboratorio de Distrofinopatías Junín 956, C.A.B.A., C.P. 1113, Buenos Aires, Argentina; Instituto de Inmunología, Genética y Metabolismo (INIGEM), CONICET - Universidad de Buenos Aires, Buenos Aires, Argentina.

Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical diagnosis, identify candidates for Ataluren treatment and perform carrier status testing. Furthermore, was our goal to characterize the DMD sequence variants and identify ancestral haplotypes. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183012
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http://dx.doi.org/10.1016/j.nmd.2018.08.012DOI Listing
December 2018
5 Reads

Relationships between muscle size, strength, and physical activity in adults with muscular dystrophy.

J Cachexia Sarcopenia Muscle 2018 Dec 19;9(6):1042-1052. Epub 2018 Oct 19.

Research Centre for Musculoskeletal Science and Sports Medicine, School of Healthcare Science, Faculty of Science and Engineering, Manchester Metropolitan University, Manchester, UK.

Background: Muscular dystrophy (MD) is characterized by progressive muscle wasting and weakness, yet few comparisons to non-MD controls (CTRL) of muscle strength and size in this adult population exist. Physical activity (PA) is promoted to maintain health and muscle strength within MD; however, PA reporting in adults with MD is limited to recall data, and its impact on muscle strength is seldom explored.

Methods: This study included 76 participants: 16 non-MD (CTRL, mean age 35. Read More

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http://doi.wiley.com/10.1002/jcsm.12347
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http://dx.doi.org/10.1002/jcsm.12347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240748PMC
December 2018
16 Reads

Limb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations.

Case Rep Neurol 2018 Sep-Dec;10(3):272-278. Epub 2018 Sep 18.

Neuroscience Institute, Saint Francis Medical Center, Trenton, New Jersey, USA.

We report the clinical and genetic analysis of a 63-year-old man with progressive weakness developing over more than 20 years. Prior to his initial visit, he underwent multiple neurological and rheumatological evaluations and was treated for possible inflammatory myopathy. He did not respond to any treatment that was prescribed and was referred to our center for another opinion. Read More

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https://www.karger.com/Article/FullText/492664
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http://dx.doi.org/10.1159/000492664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180278PMC
September 2018
13 Reads

Intramuscular interstitial amyloid deposition does not impact anoctaminopathy-5 phenotype.

Muscle Nerve 2019 Jan 17;59(1):133-137. Epub 2018 Oct 17.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.

Introduction: Recessive mutations in the anoctamin-5-encoding gene (ANO5) cause muscular dystrophy of various phenotypes. Intramuscular interstitial amyloid deposits were detected in a few patients with anoctaminopathy-5, some with cardiac involvement. The frequency of amyloid deposition in anoctaminopathy-5 and its impact on phenotype are unknown. Read More

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http://doi.wiley.com/10.1002/mus.26349
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http://dx.doi.org/10.1002/mus.26349DOI Listing
January 2019
11 Reads

Xanthine oxidase is hyper-active in Duchenne muscular dystrophy.

Free Radic Biol Med 2018 Dec 10;129:364-371. Epub 2018 Oct 10.

Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, USA.

Generation of superoxide by xanthine oxidase can be stimulated under ischemic and aberrant calcium homeostasis. Because patients and mice with Duchenne muscular dystrophy (DMD) suffer from ischemia and excessive calcium influx, we tested the hypothesis that xanthine oxidase activity is elevated and contributes to disease pathology. Xanthine oxidase activity was measured by urinary isoxanthopterin in DMD patients at rest and in response to exercise. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08915849183131
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http://dx.doi.org/10.1016/j.freeradbiomed.2018.10.404DOI Listing
December 2018
17 Reads

Hippo signaling pathway is altered in Duchenne muscular dystrophy.

PLoS One 2018 10;13(10):e0205514. Epub 2018 Oct 10.

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Hippo signaling pathway is considered a key regulator of tissue homeostasis, cell proliferation, apoptosis and it is involved in cancer development. In skeletal muscle, YAP, a downstream target of the Hippo pathway, is an important player in myoblast proliferation, atrophy/hypertrophy regulation, and in mechano-trasduction, transferring mechanical signals into transcriptional responses. We studied components of Hippo pathway in muscle specimens from patients with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy, limb-girdle muscular dystrophy type 2A and type 2B and healthy subjects. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0205514PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6179272PMC
October 2018
6 Reads

Exon Skipping in a Dysf-Missense Mutant Mouse Model.

Mol Ther Nucleic Acids 2018 Dec 22;13:198-207. Epub 2018 Aug 22.

Muscle Research Unit, Experimental and Clinical Research Center (ECRC), a cooperation between the Charité, Universitätsmedizin Berlin and the Max- Delbrück- Center for Molecular Medicine, 13125 Berlin, Germany; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany; Berlin Institute of Health, 10178 Berlin, Germany.

Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and progressive muscle wasting. Dysferlin-null mouse models do not allow study of the consequences of missense mutations. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S21622531183022
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http://dx.doi.org/10.1016/j.omtn.2018.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6172476PMC
December 2018
5 Reads

Structural characterization of the D290V mutation site in hnRNPA2 low-complexity-domain polymers.

Proc Natl Acad Sci U S A 2018 10 2;115(42):E9782-E9791. Epub 2018 Oct 2.

Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, TX 75390

Human genetic studies have given evidence of familial, disease-causing mutations in the analogous amino acid residue shared by three related RNA binding proteins causative of three neurological diseases. Alteration of aspartic acid residue 290 of hnRNPA2 to valine is believed to predispose patients to multisystem proteinopathy. Mutation of aspartic acid 262 of hnRNPA1 to either valine or asparagine has been linked to either amyotrophic lateral sclerosis or multisystem proteinopathy. Read More

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http://www.pnas.org/lookup/doi/10.1073/pnas.1806174115
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http://dx.doi.org/10.1073/pnas.1806174115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196502PMC
October 2018
4 Reads

Anoctamin 5/TMEM16E facilitates muscle precursor cell fusion.

J Gen Physiol 2018 Nov 26;150(11):1498-1509. Epub 2018 Sep 26.

Department of Cell Biology, Emory University School of Medicine, Atlanta, GA

Limb-girdle muscular dystrophy type 2L (LGMD2L) is a myopathy arising from mutations in ; however, information about the contribution of ANO5 to muscle physiology is lacking. To explain the role of ANO5 in LGMD2L, we previously hypothesized that ANO5-mediated phospholipid scrambling facilitates cell-cell fusion of mononucleated muscle progenitor cells (MPCs), which is required for muscle repair. Here, we show that heterologous overexpression of ANO5 confers Ca-dependent phospholipid scrambling to HEK-293 cells and that scrambling is associated with the simultaneous development of a nonselective ionic current. Read More

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http://dx.doi.org/10.1085/jgp.201812097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219693PMC
November 2018
24 Reads

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Orphanet J Rare Dis 2018 Sep 26;13(1):170. Epub 2018 Sep 26.

Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy.

Background: Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan. To date, mutations in at least 19 genes have been associated with α-DG. One of them, GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently been associated with a wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy and even congenital myasthenic syndromes. Read More

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http://dx.doi.org/10.1186/s13023-018-0863-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158856PMC
September 2018
11 Reads

Insertion sequence 1 from calpain-3 is functional in calpain-2 as an internal propeptide.

J Biol Chem 2018 Nov 25;293(46):17716-17730. Epub 2018 Sep 25.

From the Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario K7L 3N6, Canada

Calpains are intracellular, calcium-activated cysteine proteases. Calpain-3 is abundant in skeletal muscle, where its mutation-induced loss of function causes limb-girdle muscular dystrophy type 2A. Unlike the small subunit-containing calpain-1 and -2, the calpain-3 isoform homodimerizes through pairing of its C-terminal penta-EF-hand domain. Read More

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http://dx.doi.org/10.1074/jbc.RA118.004803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240860PMC
November 2018
7 Reads

First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features.

Medicine (Baltimore) 2018 Sep;97(38):e12506

Department of Neurology, The Second Affiliated Hospital of Nanchang University.

Limb-girdle muscular dystrophy 2L (LGMD2L) is mainly characterized by late adult onset, atrophy of proximal muscles, chronic progressive and asymmetric weakness, accompanied by increased creatine kinase (CK) levels, dystrophic pathological changes and electromyography showing myogenic damage. To date, familial LGMD2L was reported in European countries and had not been reported in China.A careful investigation of the clinical manifestations, muscle performance imaging, biopsy, and target next-generation sequencing (NGS) technology was utilized to identify pathogenic genetic variants in a 4-generation pedigree that includes 6 affected individuals. Read More

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http://dx.doi.org/10.1097/MD.0000000000012506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160217PMC
September 2018
4 Reads

A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies.

JCI Insight 2018 Sep 20;3(18). Epub 2018 Sep 20.

Department of Pediatrics, Division of Neurology at the University of Alabama at Birmingham and Children's of Alabama, Birmingham, Alabama, USA.

Zebrafish are a powerful tool for studying muscle function owing to their high numbers of offspring, low maintenance costs, evolutionarily conserved muscle functions, and the ability to rapidly take up small molecular compounds during early larval stages. Fukutin-related protein (FKRP) is a putative protein glycosyltransferase that functions in the Golgi apparatus to modify sugar chain molecules of newly translated proteins. Patients with mutations in the FKRP gene can have a wide spectrum of clinical symptoms with varying muscle, eye, and brain pathologies depending on the location of the mutation in the FKRP protein. Read More

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http://dx.doi.org/10.1172/jci.insight.120493DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237228PMC
September 2018
10 Reads

Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis.

J Neurol Sci 2018 Nov 5;394:63-67. Epub 2018 Sep 5.

Department of Neurology, Neuromuscular Unit, 12 de Octubre University Hospital, Avda de Córdoba s/n, Madrid 28041, Spain; Research Institute of Hospital 12 de Octubre (i+12), Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Spain.

Introduction: Sarcoglycanopathies (LGMD 2C2F) are a subgroup of limb-girdle muscular dystrophies (LGMD), caused by mutations in sarcoglycan genes. They usually have a childhood onset and rapidly progressive course with loss of ability to walk over 12-16 years.

Methods: Next generation sequencing (NGS) targeted gene panel was performed in three adult patients with progressive muscle weakness in which routine muscle histology and immunohistochemistry were not diagnostic. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X183034
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http://dx.doi.org/10.1016/j.jns.2018.08.026DOI Listing
November 2018
5 Reads

A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.

Chin Med J (Engl) 2018 Sep;131(18):2164-2171

Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramuscular manifestations or overlapping syndromes. Herein, we report a "complex disease plus" patient with FSHD1, accompanied by peripheral neuropathy and myoclonic epilepsy.

Methods: Standard clinical assessments, particular auxiliary examination, histological analysis, and molecular analysis were performed through the new Comprehensive Clinical Evaluation Form, pulsed-field gel electrophoresis-based Southern blot, Multiplex Ligation-dependent Probe Amplification (MLPA), whole exome sequencing (WES), and targeted methylation sequencing. Read More

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http://dx.doi.org/10.4103/0366-6999.240797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144853PMC
September 2018
22 Reads

Myofibrillar myopathy in the genomic context.

J Appl Genet 2018 Nov 10;59(4):431-439. Epub 2018 Sep 10.

Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, 5 Pawinskiego St., 02-106, Warsaw, Poland.

Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal accumulation of degradation products. The diagnosis of muscular disorders based on clinical presentation is difficult due to phenotypic heterogeneity and overlapping symptoms. In addition, precise diagnosis does not always explain the disease etiopathology or the highly variable clinical course even among patients diagnosed with the same type of myopathy. Read More

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http://dx.doi.org/10.1007/s13353-018-0463-4DOI Listing
November 2018
2 Reads

The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to Mutations.

Yonsei Med J 2018 10;59(8):1010-1011

Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3349/ymj.2018.59.8.1010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127422PMC
October 2018
1 Read

Genotypic and Phenotypic Heterogeneity of LGMD1D due to Mutations.

Authors:
Josef Finsterer

Yonsei Med J 2018 10;59(8):1008-1009

Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.3349/ymj.2018.59.8.1008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127425PMC
October 2018
1 Read

Characteristic findings of skeletal muscle MRI in caveolinopathies.

Neuromuscul Disord 2018 Oct 31;28(10):857-862. Epub 2018 Jul 31.

Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan. Electronic address:

Caveolinopathies, caused by CAV3 mutations, can include several phenotypes such as rippling muscle disease, limb-girdle muscular dystrophy type 1C, distal myopathy, familial hypertrophic cardiomyopathy, and idiopathic hyperCKemia. Here we present characteristic skeletal muscle imaging findings in four patients with genetically defined childhood-onset RMD caused by CAV3 mutations and in one patient with congenital generalized lipodystrophy type 4 with muscular dystrophy due to polymerase I and transcript release factor (PTRF) mutations, which may have caused secondary deficiency of caveolin-3. Muscle MRI revealed that the rectus femoris and semitendinosus muscles were most commonly affected in the rippling muscle disease patients. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.07.010DOI Listing
October 2018
7 Reads
2.640 Impact Factor

Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.

Methods Mol Biol 2018 ;1828:79-90

Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

Antisense-mediated exon skipping and exon inclusion have proven to be powerful tools for treating neuromuscular diseases. The approval of Exondys 51 (eteplirsen) and Spinraza (nusinersen) for the treatment of patients with Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) was the most noteworthy accomplishment in 2016. Exon skipping uses short DNA-like molecules called antisense oligonucleotides (AONs) to correct the disrupted reading frame, allowing the production of functional quasi-dystrophin proteins, and ameliorate the progression of the disease. Read More

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http://dx.doi.org/10.1007/978-1-4939-8651-4_5DOI Listing
January 2018
3 Reads

An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.

Methods Mol Biol 2018 ;1828:31-55

Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada.

Exon skipping is a therapeutic approach that is feasible for various genetic diseases and has been studied and developed for over two decades. This approach uses antisense oligonucleotides (AON) to modify the splicing of pre-mRNA to correct the mutation responsible for a disease, or to suppress a particular gene expression, as in allergic diseases. Antisense-mediated exon skipping is most extensively studied in Duchenne muscular dystrophy (DMD) and has developed from in vitro proof-of-concept studies to clinical trials targeting various single exons such as exon 45 (casimersen), exon 53 (NS-065/NCNP-01, golodirsen), and exon 51 (eteplirsen). Read More

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http://dx.doi.org/10.1007/978-1-4939-8651-4_2DOI Listing
January 2018
6 Reads

Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit.

Mol Ther 2018 Sep 27;26(9):2231-2242. Epub 2018 Aug 27.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA. Electronic address:

Mutations of the DYSF gene leading to reduced dysferlin protein level causes limb girdle muscular dystrophy type 2B (LGMD2B). Dysferlin facilitates sarcolemmal membrane repair in healthy myofibers, thus its deficit compromises myofiber repair and leads to chronic muscle inflammation. An experimental therapeutic approach for LGMD2B is to protect damage or improve repair of myofiber sarcolemma. Read More

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http://dx.doi.org/10.1016/j.ymthe.2018.07.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127637PMC
September 2018
7 Reads

Biochemical and pathological changes result from mutated Caveolin-3 in muscle.

Skelet Muscle 2018 08 28;8(1):28. Epub 2018 Aug 28.

Biomedical Research Department, Tissue Omics group, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V, Otto-Hahn-Str. 6b, 44227, Dortmund, Germany.

Background: Caveolin-3 (CAV3) is a muscle-specific protein localized to the sarcolemma. It was suggested that CAV3 is involved in the connection between the extracellular matrix (ECM) and the cytoskeleton. Caveolinopathies often go along with increased CK levels indicative of sarcolemmal damage. Read More

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http://dx.doi.org/10.1186/s13395-018-0173-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6114045PMC
August 2018
5 Reads

Limb-girdle Muscular Dystrophy Type 2A with Muscular Eosinophilic Infiltration in a Chinese Patient.

Chin Med J (Engl) 2018 Sep;131(17):2133-2134

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.

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http://dx.doi.org/10.4103/0366-6999.239307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6111678PMC
September 2018
4 Reads