Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients.

ABSTRACT:

Background

LAMA2-related limb girdle muscular dystrophy (LGMD R23) is rare. The detailed clinical phenotypes and genetic information associated with LGMD R23 are unknown.

Methods

We conducted a retrospective cross-sectional and longitudinal study on 19 LGMD R23 patients.

Results

Normal early motor development was observed in 84.2% patients. Mild orthopedic complications were observed in 42.1% patients. 36.8% patients had seizures, which is unusually frequent in LGMD. Epilepsy was eventually diagnosed in 26.3% patients. 46.7% patients presented with motor neuropathy. Genetic analysis identified 29 pathogenic variants, with missense and frameshift variants being the most common. The mutant sites were mainly distributed in the N-terminal and G-like domains of lami

SUBMITTER: Huang X 

PROVIDER: S-EPMC10190595 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature