TY - JOUR
T1 - Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF
AU - Naini, Ali B.
AU - Lu, Jiesheng
AU - Kaufmann, Petra
AU - Bernstein, Richard A.
AU - Mancuso, Michelangelo
AU - Bonilla, Eduardo
AU - Hirano, Michio
AU - DiMauro, Salvatore
PY - 2005/3
Y1 - 2005/3
N2 - 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.
AB - 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.
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U2 - 10.1001/archneur.62.3.473
DO - 10.1001/archneur.62.3.473
M3 - Article
C2 - 15767514
AN - SCOPUS:14844312924
SN - 0003-9942
VL - 62
SP - 473
EP - 476
JO - Archives of Neurology
JF - Archives of Neurology
IS - 3
ER -