MeSH Browser

MeSH Supplementary: Limb-girdle muscular dystrophy type 2A
Unique ID: C535895
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535895
Entry Term(s): Calpainopathy; LGMD2; LGMD2A; Leyden-Moebius muscular dystrophy; Limb-girdle muscular dystrophy type 2; Muscular Dystrophy, Limb-Girdle, Type 2; Muscular Dystrophy, Limb-Girdle, Type 2A; Muscular dystrophy, pelvofemoral; Myositis, Eosinophilic
Registry Number: 0
Heading Mapped to: *Muscular Dystrophies, Limb-Girdle
Frequency: 120
Note: An autosomal recessive form of muscular dystrophy primarily affecting the proximal muscles, resulting in difficulty walking. The age at onset varies, but typically occurs in childhood, and the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and CONTRACTURES. Mutations in the CAPN3 gene have been identified. OMIM: 253600
Date of Entry: 2010/08/25
Revision Date: 2015/09/30

Limb-girdle muscular dystrophy type 2A MeSH Supplementary Concept Data 2024