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Article

Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndrome

16 Jan 2017

Abstract excerpt

OBJECTIVE: To identify the molecular basis and elucidate the pathogenesis of a fatal congenital myasthenic syndrome. METHODS: We performed clinical electrophysiology studies, exome and Sanger sequencing, and analyzed functional consequences of the identified mutation. RESULTS: Clinical electrophysiology studies of the patient revealed several-fold potentiation of the evoked muscle action potential by high...

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PMID: 28168212
DOI: 10.1002/acn3.387

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