[SMC] Congenital myasthenic syndrome from a MUSK gene mutation

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Pract Neurol. 2023 Nov 20:pn-2023-003945. doi: 10.1136/pn-2023-003945. Online ahead of print.

ABSTRACT

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.

PMID:37985124 | DOI:10.1136/pn-2023-003945


Source: https://pubmed.ncbi.nlm.nih.gov/3798512 ... 8&v=2.18.0