Case Reports
doi: 10.1212/01.wnl.0000066048.72780.69.
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome
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- PMID: 12796552
- DOI: 10.1212/01.wnl.0000066048.72780.69
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Case Reports
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome
Neurology.
.
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.
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