Abstract
Background: Dysferlinopathy refers to a group of autosomal recessive muscular dystrophies caused by mutations in DYSF, which encodes dysferlin working for calcium-dependent membrane repair in skeletal muscle. The disease group includes three distinct disorders; limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM) and distal anterior compartment myopathy. Since dysferlinopathy is considered as a relatively common cause of muscular dystrophy in Korea, it is needed to characterize clinical and genetic features in Korean patients of dysferlinopathy.
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