Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles.

Yanyan MaTing XiongGuohua LeiJiaqi DingRui YangZunbo LiJun GuoDingguo Shen

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)

Collectively, molecular genetic analysis and muscle biopsy play crucial roles in the diagnosis of GFPT1-related LG-CMS with rimmed vacuoles (a rare phenotype of CMS) and have important implications for treatment decision.

Keyphrases

copy number
skeletal muscle
genome wide
early onset
ultrasound guided
case report
gene expression
genome wide identification
smoking cessation
duchenne muscular dystrophy