Ontology highlight
ABSTRACT:
SUBMITTER: Barthelemy F
PROVIDER: S-EPMC3188867 | biostudies-literature | 2011 Sep-Oct
REPOSITORIES: biostudies-literature
Barthélémy Florian F Wein Nicolas N Krahn Martin M Lévy Nicolas N Bartoli Marc M
Molecular medicine (Cambridge, Mass.) 20110506 9-10
Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) and the second most common being LGMD. Symptoms generally appear at the end of childhood and, although disease progression is typically slow, walking impairments eventually result. Dysferlin is a modula ...[more]