Dysferlinopathies

AA Amato, RH Brown Jr - Handbook of clinical neurology, 2011 - Elsevier
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 than distal weakness similar to other limb-girdle
muscular dystrophies (LGMD2B), with anterior tibial weakness, an axial myopathy (eg, rigid …