LATE ONSET MYOPATHY (DYSFERLINOPATHY): A FAMILY PRESENTATION
PDF

Case Report

LATE ONSET MYOPATHY (DYSFERLINOPATHY): A FAMILY PRESENTATION

Gazi Med J 2010;21(2):97-99
, ,
PDF
Permissions

Abstract

Dysferlin is a membrane protein. Mutations in the dysferlin gene lead to Miyoshi myopathy, limb-girdle muscular dystrophy 2B, distal anterior compartment myopathy, and scapuloperoneal muscular dystrophy. Herein we describe the findings from a family with late onset myopathy who were diagnosed with dysferlinopathy.

Keywords: Dysferlin, Dysferlinopathy, Distal Myopathy, Limb-Girdle Muscular Dystrophy, Miyoshi Myopathy.