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Ann Neurol. 2008 Mar;63(3):405-8. doi: 10.1002/ana.21332.

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

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Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem.


Complex I deficiency is the most common respiratory chain defect, clinically manifesting by severe neonatal lactic acidosis, Leigh's disease, or various combinations of cardiac, hepatic, and renal disorders. Using homozygosity mapping, we identified a splice-site mutation in the NDUFA11 gene in six patients from three unrelated families. The patients presented with encephalocardiomyopathy or fatal infantile lactic acidemia. The mutation is predicted to abolish the first transmembrane domain of the gene product, thereby destabilizing the enzymatic complex. Mutation analysis of the NDUFA11 is warranted in isolated complex I deficiency presenting with infantile lactic acidemia or encephalocardiomyopathy.

[Indexed for MEDLINE]

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