SLC25A1 and congenital myasthenic syndrome: Interestingly, Edvardson et al. reported that a patient having different compound heterozygous missense mutations in SLC25A1 (G130D and R282H) suffered from a neuromuscular transmission defect [260], thus confirming the existence of a correlation between SLC25A1 and congenital myasthenic syndromes.