" /> Mitochondrial complex V (atp synthase) deficiency, nuclear type 6 - CISMeF





Preferred Label : Mitochondrial complex V (atp synthase) deficiency, nuclear type 6;

Symbol : MC5DN6;

CISMeF acronym : MC5DN6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the upregulated during skeletal muscle growth 5, mouse, homolog of, gene (USMG5, 615204.0001);

Laboratory abnormalities : Decreased ATP production in patient fibroblasts; Normal mitochondrial respiratory enzyme activity in patient fibroblasts;

Prefixed ID : #618683;

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27/07/2025


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