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.
Original language | English |
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Pages (from-to) | 1857-1861 |
Number of pages | 5 |
Journal | Neurology |
Volume | 60 |
Issue number | 11 |
Publication status | Published - Jun 10 2003 |
ASJC Scopus subject areas
- Neuroscience(all)