Article
Translational research and therapeutic perspectives in dysferlinopathies.
Molecular medicine (Cambridge, Mass.) - 1 Jan 2000
Barthélémy Florian, Wein Nicolas, Krahn Martin, Lévy Nicolas, Bartoli Marc
Abstract excerpt
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...
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