['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.', 'We used homozygosity mapping and whole exome sequencing to identify the candidate gene variants. Mutant protein expression and function were assessed ', 'We identified a novel homozygous missense mutation in the '] Are mutations in the Mitochondrial Citrate Carrier SLC25A1 Associated with Impaired Neuromuscular Transmission?