Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series.

ABSTRACT: Congenital myasthenic syndrome with episodic apnea is associated with pathogenic variants in the CHAT gene. While respiratory disorders and oculomotor findings are commonly reported in affected individuals, a subset of patients only present with muscle weakness and/or ptosis but not apneic crises. In this case series, we describe five individuals with exercise intolerance caused by single nucleotide variants in the CHAT gene. The age of onset ranged from 1 to 2.5 years, and all patients exhibited a fluctuating course of congenital myasthenic syndrome without disease progression over several years. Notably, these patients maintained a normal neurological status, except for the presence of abnormal fatigability in their leg muscles following prolonged physical activity. We cond

SUBMITTER: Murtazina A 

PROVIDER: S-EPMC10830679 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature