A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film

Dysferlin is encoded by the DYSF gene on chromosome 2p13 as a protein of approximately 237 kDa. Dysferlin is widely expressed, but it predominates at the sarcolemma of striated muscle [1] where it is involved in membrane repair [2,3], regeneration [4] and differentiation [5]. Mutations in DYSF cause the autosomal recessive muscular disorders limb girdle muscular dystrophy R2 (LGMDR2 dysferlin-related, formerly LGMD2B, OMIM 253601), Miyoshi Myopathy (OMIM 254130), distal myopathy with anterior tibial onset (OMIM 606768) and congenital muscular dystrophy [1,6 –8].

Source: Neuromuscular Disorders - September 12, 2019 Category: Neurology Authors: Daniel Cox, Matthew Henderson, Volker Straub, Rita Barresi Source Type: research