Clinical spectrum and genetic variations of <i>LMNA</i>-related muscular dystrophies in a large cohort of Chinese patients

Abstract

Our detailed clinical and genetic analysis of 84 patients with <i>LMNA</i>-related muscular dystrophy expands clinical spectrum and broadens genetic variations caused by <i>LMNA</i> mutations. We identified 21 novel and 29 known <i>LMNA</i> mutations and found two frequent mutations. A correlation between the location of mutation and the clinical severity was observed. Preliminary data suggested that low-dose corticosteroid treatment may be effective.