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Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

1 Jan 2014

Abstract excerpt

Background and Objective: Congenital myasthenic syndromes are rare inherited disorders characterized by fatigable weakness caused by malfunction of the neuromuscular junction. We performed whole exome sequencing to unravel the genetic aetiology in an English sib pair with clinical features suggestive of congenital myasthenia. Methods: We used homozygosity mapping and whole exome sequencing to identify the...

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PMID: 26870663
DOI: 10.3233/jnd-140021

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