RT Journal Article SR Electronic T1 Congenital myasthenic syndrome from a MUSK gene mutation JF Practical Neurology JO Pract Neurol FD BMJ Publishing Group Ltd SP pn-2023-003945 DO 10.1136/pn-2023-003945 A1 McLean, Antonia A1 Wilson, Ian YR 2023 UL http://pn.bmj.com/content/early/2023/11/20/pn-2023-003945.abstract AB Slowly progressive neuromuscular symptoms often have a genetic basis. We present the case of a woman in her 40s with gradually progressive symmetrical weakness and respiratory muscle involvement. Extensive investigation found no specific cause. After a novel neuromuscular gene panel became available, we identified a mutation in the MUSK gene (muscle-specific kinase), confirming a diagnosis of congenital myasthenic syndrome. This group of rare disorders are caused by mutations in genes encoding the neuromuscular junction.Data sharing not applicable as no datasets generated and/or analysed for this study.