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Definition

A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.

Acronym

MT-C1D

Synonyms

Complex 1 mitochondrial respiratory chain deficiency
Complex I mitochondrial respiratory chain deficiency
Mitochondrial NADH dehydrogenase component of complex I deficiency
NADH:Q(1) oxidoreductase deficiency
NADH:Ubiquinone oxidoreductase deficiency
NADH-Coenzyme Q reductase deficiency

Keywords

Primary mitochondrial disease

 
Disclaimer

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