Mitochondrial Complex V Deficiency, Nuclear Type 1 (MC5DN1)

Alias:

Mc5dn1

Mc1dn5

Mitochondrial Complex I Deficiency, Nuclear Type 5

Mitochondrial Complex 1 Deficiency, Nuclear Type 5

Mitochondrial Complex V Deficiency, Atpaf2 Type

Atpase Deficiency

Mitochondrial Complex V Deficiency, Nuclear, Type 1

Complex 5 Mitochondrial Respiratory Chain Deficiency

Complex V Mitochondrial Respiratory Chain Deficiency

Mitochondrial Complex V Deficiency Nuclear Type 1

Mitochondrial Complex V Deficiency, Nuclear Type 1

Nuclear Type Mitochondrial Complex I Deficiency 5

Mitochondrial Complex V Deficiency Type 1

Mi Complex I Deficiency, Nuclear Type 5

Atp Synthase Deficiency

Complex V Deficiency

Atpaf2 Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Complex V Deficiency, Nuclear Type 1, also known as mc5dn1, is related to leigh syndrome and mitochondrial complex v deficiency, nuclear type 2, and has symptoms including ataxia An important gene associated with Mitochondrial Complex V Deficiency, Nuclear Type 1 is ATPAF2 (ATP Synthase Mitochondrial F1 Complex Assembly Factor 2). Affiliated tissues include liver and brain, and related phenotypes are failure to thrive and hypotonia

Related ID：

MALACARDS：MTC029

OMIM：604273

MESH：D017237