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Ali B. Naini, PhD; Jiesheng Lu, MD; Petra Kaufmann, MD, MSc; Richard A. Bernstein, MD, PhD; Michelangelo Mancuso, MD; Eduardo Bonilla, MD; Michio Hirano, MD; Salvatore DiMauro, MD

Arch Neurol. 2005;62:473-476.

Background  The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS) and various overlap syndromes.

Objective  To describe a novel mutation in the ND5 gene in a young man man with an overlap syndrome of MELAS and myoclonus epilepsy with ragged-red fibers.

Design  Case report.

Patient  A 25-year-old man had recurrent strokes, seizures, and myoclonus. His mother also had multiple strokes. A muscle biopsy specimen showed no ragged-red fibers but several strongly succinate dehydrogenase–reactive blood vessels.

Results  Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A) in the ND5 gene.

Conclusions  These data confirm that ND5 is a genetic hot spot for overlap syndromes, including MELAS and strokelike and myoclonus epilepsy with ragged-red fibers.

Author Affiliations: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY (Drs Naini, Lu, Kaufmann, Mancuso, Bonilla, Hirano, and DiMauro); and the Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, Ill (Dr Bernstein).

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