Congenital myasthenic syndromes: where do we go from here?

Abstract excerpt

Congenital myasthenia syndromes are rare but often treatable conditions affecting neuromuscular transmission. They result from loss or impaired function of one of a number of proteins secondary to a genetic defect. An estimate of the prevalence in the UK gave 9.2 cases per million, however, this is likely an underestimate since the adoption of next generation sequencing for diagnosis away from specialist centres...

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