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