Scientists have identified a gene defect in mitochondria, specifically the citrate carrier SLC25A1, that may underlie deficits in neuromuscular transmission seen in two siblings with congenital myasthenic syndromes (CMS). "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 Lochmuller, MD, Professor ...
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