2,698 results match your criteria Limb-Girdle Muscular Dystrophy


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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December 2018

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

J Neurol 2018 Dec 4. 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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December 2018
3 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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January 2019
1 Read

VCP myopathy: A family with unusual clinical manifestations.

Muscle Nerve 2018 Nov 29. Epub 2018 Nov 29.

Department of Neuromuscular Disease, The Third Hospital of Hebei Medical University, 139# Ziqiang Road, Shijiazhuang City, Hebei Province, 050051, P. R. China.

Introduction: Valosin-containing protein (VCP) variants that affect muscle, bone, and the nervous system are termed multisystem proteinopathy. VCP myopathy is manifested as limb-girdle weakness, distal weakness and scapuloperoneal weakness.

Methods: We reviewed clinical, genetic, and muscle biopsy data from 6 members of a family with VCP myopathy. Read More

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November 2018

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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November 2018
1 Read

Necrotizing Autoimmune myopathy: A case report on statin induced rhabdomyolysis requiring immunosuppressive therapy.

Drug Discov Ther 2018 ;12(5):315-317

Department of Internal Medicine, Creighton University School of Medicine.

Statins can cause a wide spectrum of muscular adverse effects ranging from asymptomatic elevation of Creatine Kinase (CK), myalgia and exercise intolerance to rhabdomyolysis. Most of these effects generally resolve on stopping the medication. However, statins can be associated with a unique autoimmune myopathy wherein symptoms persist or even progress after statin discontinuation and require immunosuppressive therapy. Read More

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January 2018
6 Reads

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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September 2018
1 Read

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 2018 Nov 18. 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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November 2018
3 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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November 2018
4 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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December 2018
6 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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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 Oct 9. 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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October 2018
1 Read

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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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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October 2018
3 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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December 2018
6 Reads
2.470 Impact Factor

Late-Onset Pompe Disease with Nemaline Bodies.

Case Rep Neurol Med 2018 27;2018:4127213. Epub 2018 Sep 27.

Neuromuscular Diseases Unit, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.

Pompe disease is an autosomal recessive disorder characterized by deficiency of alpha-glucosidase, a lysosomal enzyme, which can lead to glycogen accumulation in skeletal muscle, heart, and nervous system. Clinical presentation is highly variable, with infantile and late-onset (LOPED) forms. Although muscle biopsy findings are rather stereotyped, atypical features have been described. Read More

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September 2018
3 Reads

Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.

Korean J Pediatr 2018 Oct 23. Epub 2018 Oct 23.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Purpose: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. The present study described clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) in one tertiary medical center.

Methods: Five Korean patients (two males and three females) diagnosed with PD between 2002 and 2013 at Samsung Medical Center in Seoul, Republic of Korea. Read More

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October 2018
10 Reads

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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September 2018
3 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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November 2018
1 Read
2.370 Impact Factor

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

Neuromuscul Disord 2018 Sep 6. 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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September 2018
3 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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December 2018
8 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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September 2018
6 Reads

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

Muscle Nerve 2018 Sep 22. Epub 2018 Sep 22.

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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September 2018
6 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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December 2018
12 Reads

Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis.

Eur J Neurol 2018 Oct 12. Epub 2018 Oct 12.

Department of Clinical and Experimental Medicine, University of Messina, Messina.

Background And Purpose: Late-onset Pompe disease (LOPD) is a rare, multisystem disorder that is well established to mainly impair skeletal muscle function. Systematic studies exploring brain functions in LOPD are lacking. The aim of this study was to detect morphological and functional brain alterations as well as neuropsychological impairment in LOPD. Read More

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October 2018
7 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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October 2018
3 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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December 2018
3 Reads

Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy.

Neurology 2018 Nov 5;91(19):e1770-e1777. Epub 2018 Oct 5.

From the Department of Neurology (J.C.K., M.M., D.S., X.-M.S., A.G.E., T.L.), Mayo Clinic, Rochester, MN; and Department of Neurology (J.C.K.), Auckland City Hospital, New Zealand.

Objective: To investigate the diagnostic challenges of congenital myasthenic syndromes (CMS) in adult neuromuscular practice.

Methods: We searched the Mayo Clinic database for patients with CMS diagnosed in adulthood in the neuromuscular clinic between 2000 and 2016. Clinical, laboratory, and electrodiagnostic data were reviewed. Read More

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November 2018
9 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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October 2018
3 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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November 2018
13 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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September 2018
4 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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November 2018
4 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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September 2018
3 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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September 2018
8 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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November 2018
4 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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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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October 2018

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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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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October 2018
3 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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January 2018

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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January 2018
1 Read

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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September 2018
5 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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August 2018
3 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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September 2018
2 Reads

Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.

J Clin Neuromuscul Dis 2018 Sep;20(1):14-27

Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, India.

Objectives: To investigate the mutational spectrum and genotype-phenotype correlation in Indian patients with congenital myasthenic syndrome (CMS), using next-generation sequencing of 5 genes.

Methods: CHRNE, COLQ, DOK7, RAPSN, and GFPT1 were sequenced in 25 affected patients.

Results: We found clinically significant variants in 18 patients, of which variants in CHRNE were the most common, and 9 were novel. Read More

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September 2018
10 Reads

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

Orphanet J Rare Dis 2018 Aug 14;13(1):133. Epub 2018 Aug 14.

Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2 Road, Guangzhou, 510080, GD, China.

Background: Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle muscles. Although the condition has been well-characterized, clinical and genetic heterogeneity can be observed in patients with LGMD. Here, we aimed to describe the clinical manifestations and genetic variability among a cohort of patients with LGMD in South China. Read More

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August 2018
5 Reads

Novel Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy.

Case Rep Genet 2018 16;2018:8090797. Epub 2018 Jul 16.

Department of Pediatrics, Guizhou Provincial People's Hospital, Guiyang, Guizhou 559992, China.

Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness. It is caused by mutations at over 50 known genetic loci typically from mutations in genes encoding constituents of the sarcolemmal dystrophin complex or related functions. Herein we describe the case of two siblings with LGMD that were investigated using whole-exome sequencing followed by Sanger sequencing validation of a specific double-mutation in the gene. Read More

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July 2018
3 Reads

[Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Aug;35(4):498-501

Department of Obstetrics and Gynecology, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second Hospital, Sichuan University, Chengdu, Sichuan 610041, China.

Objective: To analyze mutations of DYSF gene in two pedigrees affected with limb-girdle muscular dystrophy 2B (LGMD-2B).

Methods: Genomic DNA was extracted from peripheral blood samples of the two probands and unaffected family members. Variant sites were screened by next-generation sequencing using gene panel as well as Sanger sequencing. Read More

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August 2018
11 Reads

A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy.

J Stroke Cerebrovasc Dis 2018 Nov 6;27(11):3046-3052. Epub 2018 Aug 6.

Advanced Clinical Research Center, Institute of Neurological Disorders, Kawasaki, Kanagawa, Japan; Department of Gene Therapy, Institute for deoxyribonucleic acid (DNA) Medicine, The Jikei University School of Medicine, Tokyo, Japan. Electronic address:

Background: Pompe disease is an autosomal recessive glycogen storage disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase. The adult-onset form, late-onset Pompe disease, has been characterized by glycogen accumulation, primarily in skeletal and smooth muscles, causing weakness of the proximal limb girdle and respiratory compromises.

Case Report: A 59-year-old female was admitted to the hospital with acute cerebral stroke at the age of 57years. Read More

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November 2018
10 Reads

Renal artery fibromuscular dysplasia in Pompe disease: A case report.

Mol Genet Metab Rep 2018 Sep 26;16:64-65. Epub 2018 Jul 26.

Centre de Référence Neuromusculaire Nord/Est/Ile de France, AP-HP, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.

Vascular involvement in Late Onset Pompe Disease, glycogen storage disease type II characterized by limb-girdle muscle and diaphragmatic weakness, is well documented. Abnormalities of posterior cerebral circulation have mostly been reported, whereas there are also cases of associated extracerebral arteriopathy. We report the case of a 42-year-old man diagnosed with LOPD a year after renal infarct due to renal artery fibromuscular dysplasia. Read More

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September 2018
13 Reads