Researchers Identify Mitochondrial Mutation Linked to Congenital Myasthenic Syndrome

Although significant progress has been made over the last 25 years to identify genetic abnormalities associated with congenital myasthenic syndromes (CMS), many patients remain genetically undiagnosed. A report in the inaugural issue of the Journal of Neuromuscular Diseases identifies a gene defect in mitochondria, specifically the citrate carrier SLC25A1, that may underlie deficits in neuromuscular transmission seen in two siblings.

Fuente : http://www.alphagalileo.org/ViewItem.aspx?ItemId=1...