Article
Unusual presentations of patients with the mitochondrial MERRF mutation A8344G.
Clinical neurology and neurosurgery - 1 Sept 2008
Wiedemann Falk R, Bartels Claudius, Kirches Elmar, Mawrin Christian, Wallesch Claus-W
Abstract excerpt
MERRF is typically characterized by myoclonus, generalized seizures and ragged-red fibers in muscular biopsy. We report a family (harbouring the A8344G mutation) with a late onset of the disease and an uncommon clinical manifestation, including episodes of reversible respiratory failure, the presence of ophthalmoplegia, and the absence of seizures and myoclonus in most subjects. We conducted histochemical,...
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