2,698 results match your criteria Limb-Girdle Muscular Dystrophy
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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:
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Yonsei Med J 2018 10;59(8):1010-1011
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
Yonsei Med J 2018 10;59(8):1008-1009
Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Vienna, Austria.
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
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
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
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
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
Chin Med J (Engl) 2018 Sep;131(17):2133-2134
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
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
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
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
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
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
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