" /> Mitochondrial complex I deficiency, nuclear type 7 - CISMeF





Preferred Label : Mitochondrial complex I deficiency, nuclear type 7;

Symbol : MC1DN7;

CISMeF acronym : MC1DN7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NADH-ubiquinone oxidoreductase flavoprotein 2 gene (NDUFV2, 600532.0002);

Laboratory abnormalities : Mitochondrial respiratory complex I deficiency in various tissues; Increased lactate:pyruvate ratio;

Prefixed ID : #618229;

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11/07/2025


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