Congenital myasthenic syndrome (CMS) is a clinical and genetic heterogeneous condition caused by defect in the neuromuscular junction and characterised by fatigable muscle weakness, bulbar and ocular symptoms. Over 20 disease causative genes have been reported, however 30% of CMS patients remain genetically undiagnosed, suggesting that many novel CMS are yet to be identified. After a hotspot pre-screening step, we have applied next generation sequencing techniques, including target panel, whole exome (WES) and whole genome sequencing (WGS) to investigate a cohort of clinically diagnosed CMS patients (n = 54; 43 pedigrees).

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