A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome
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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Publication History
Received: November 5, 2002
Accepted: February 14, 2003
Published online: June 10, 2003
Published in print: June 10, 2003
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