Significant progress has been made over the last 25 years to identify genetic abnormalities associated with congenital myasthenic syndromes (CMS) but many patients remain genetically undiagnosed. A new report identifies a gene defect in mitochondria, specifically the citrate carrier SLC25A1, that may underlie deficits in neuromuscular transmission seen in two siblings.
"While mitochondrial gene defects can cause a myriad of neurological disorders including myopathies and neuropathies, these have not been specifically implicated in defects of the neuromuscular junction," says Hanns Lochmüller, MD, Professor of Experimental Myology, Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.