Article
Dysferlinopathies.
Handbook of clinical neurology - 1 Jan 2011
Amato Anthony A, Brown Robert H
Abstract excerpt
Dysferlin is a sarcolemmal protein that plays an important role in patching defects in skeletal membrane by regulating vesicle fusion with the sarcolemma. Mutations in the dysferlin gene can lead to a variety of clinical phenotypes. Affected individuals usually present with early involvement of the posterior calf muscles (Miyoshi myopathy) in their teens or early twenties, but can present with proximal greater...
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