A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
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Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G, Comi GP
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
Neurology. 2003 Jun 10;60(11):1857-61.
- PubMed ID
- 12796552 [ View in PubMed]
- Abstract
A 13084 A->T missense mutation in the mitochondrial ND5 gene was identified in a 16-year-old boy affected with a progressive neurodegenerative disorder combining features of Leigh and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) syndromes. Muscle biopsy analysis revealed partial complex I deficiency. The mutation presented a variable degree of heteroplasmy in the patient's tissues. This finding underlines the contribution of mtDNA-encoded complex I subunits in the etiology of complex I deficiency associated with encephalopathy.