Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities. [PDF]
Int J Mol SciDysferlin is a large transmembrane protein involved in critical cellular processes including membrane repair and vesicle fusion. Mutations in the dysferlin gene (DYSF) can result in rare forms of muscular dystrophy; Miyoshi myopathy; limb girdle muscular
Poudel BH +3 more
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Neuromuscular Disorders, 2000 Dysferlin is the protein product of the gene (DYSF) that is defective in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy. Calpain 3 is the muscle-specific member of the calcium activated neutral protease family and primary ...
L. V. Anderson +18 more
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Limb-Girdle Muscular Dystrophy Type 2B and Morbihan Disease: A Case Report With an Atypical Presentation. [PDF]
CureusThis case report presents a 38-year-old man with no significant medical history who was referred to the Internal Medicine Department due to dermatosis and muscle weakness.
Briceño Moya F +2 more
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Next-generation sequencing identified a novel DYSF variant in a patient with limb-girdle muscular dystrophy type 2B: A case report. [PDF]
Medicine (Baltimore), 2020 Rationale: Limb-girdle muscular dystrophy (LGMD) is a genetic disease, which is characterized by muscle atrophy and weakness mainly involving proximal muscles.
Li Q, Tan C, Chen J, Zhang L.
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Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report. [PDF]
Medicine (Baltimore), 2020 Rationale: The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive proximal muscle weakness and have more than 30 different subtypes linked to specific gene loci, which manifest as highly ...
Lee SJ, Choi E, Shin S, Park J.
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Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review. [PDF]
Medicine (Baltimore), 2018 Rationale: Dysferlin myopathy is an autosomal recessive hereditary muscular dystrophy due to deficiency of dysferlin caused by alteration of the DYSF gene; Limb-girdle muscular dystrophy type 2B (LGMD2B) is the most common in Its clinical phenotypes ...
Xu C, Chen J, Zhang Y, Li J.
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Initial presentation with elevated transaminases and subsequent hematuria in limb-girdle muscular dystrophy type 2B: A case report. [PDF]
Medicine (Baltimore)Rationale: Limb-girdle muscular dystrophy type 2B (LGMD2B) is a degenerative muscle disorder induced by mutations in the dysferlin gene. Dysferlin is involved in membrane repair and vesicle fusion through its 7 C2 calcium-binding domains, which mediate ...
Ji Z +5 more
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Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report. [PDF]
Pediatr Rheumatol Online J, 2013 Limb girdle muscular dystrophy type 2B is a rare subtype of muscular dystrophy, the predominant feature of which is muscle weakness. The disease is caused by an autosomal recessively inherited reduction/absence of muscle dysferlin due to a mutation in ...
Jethwa H +5 more
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Arquivos de Neuro-Psiquiatria, 2008 Hospital Universitario Walter Cantidio, Universidade Federal do Ceara, Fortaleza CE, Brazil.Received 1 August 2007, received in final form 23 October 2007. Accepted 7 December 2007.Dr. Francisco de Assis Aquino Gondim – Universidade Federal do Ceara / CP
Leonardo Halley Carvalho Pimentel +4 more
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Current Topics of Progressive Cardiac Conduction Disease. [PDF]
J ArrhythmMany genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Sumitomo N +7 more
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