A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
case_report · Level V
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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.
Medical subject headings
- Electron Transport Complex I
- Leigh Disease
- MELAS Syndrome
- Mitochondrial Proteins
- Mutation, Missense