The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

ABSTRACT:

Background

Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle muscles. Although the condition has been well-characterized, clinical and genetic heterogeneity can be observed in patients with LGMD. Here, we aimed to describe the clinical manifestations and genetic variability among a cohort of patients with LGMD in South China.

Results

We analyzed the clinical information, muscle magnetic resonance imaging (MRI) findings, and genetic results obtained from 30 patients (24 families) with clinically suspected LGMD. In 24 probands, 38 variants were found in total, of which 18 were shown to be novel. Among the 30 patients, the most common subtypes were dysferlinopathy in eight (26

SUBMITTER: Wang L 

PROVIDER: S-EPMC6092860 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature