Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene.

ABSTRACT:

Introduction

Mutations of LAMA2 gene are associated with congenital muscular dystrophy (CMD). The LAMA2-related CMD mainly consists of two diseases, merosin deficient congenital muscular dystrophies type 1A (MDC1A) and limb girdle muscular dystrophy 23 (LGMD23). LGMD23 is characterized by slowly progressive proximal muscle weakness, which primarily affects the lower limbs and results in gait difficulties. Additional clinical features include increased serum creatine kinase, abnormal electromyography with or without white matter abnormalities on brain imaging.

Methods

Clinical data were collected from a Chinese Han family. Whole-exome sequencing, Sanger sequencing, RT-PCR and TA clone sequencing were performed on the family members.

Results

Compound heter

SUBMITTER: Xu Y 

PROVIDER: S-EPMC10316388 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature