Article
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.
Human molecular genetics - 1 Nov 1996
McNally E M, Duggan D, Gorospe J R, Bönnemann C G, Fanin M, Pegoraro E, Lidov H G, Noguchi S, Ozawa E, Finkel R S, Cruse R P, Angelini C, Kunkel L M, Hoffman E P
Abstract excerpt
Recently, mutations in the genes encoding several of the dystrophin-associated proteins have been identified that produce phenotypes ranging from severe Duchenne-like autosomal recessive muscular dystrophy to the milder limb-girdle muscular dystrophies (LGMDs). LGMD type 2C is generally associated with a more severe clinical course and is prevalent in northern Africa. A previous study identified a single base...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.