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Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1(MC5DM1)

MedGen UID:
477315
•Concept ID:
C3275684
•
Disease or Syndrome
Synonym: Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1
 
Monarch Initiative: MONDO:0027069
OMIM®: 500015

Definition

A genetic condition caused by mutation(s) in the MTATP6 gene, encoding ATP synthase subunit a. The disorder is part of a group of congenital defects of complex V (ATP synthase). [from NCI]

Recent clinical studies

Etiology

Mitochondrial damage and clearance in retinal pigment epithelial cells.
Gurubaran IS
Acta Ophthalmol 2024 Mar;102 Suppl 282:3-53. doi: 10.1111/aos.16661. PMID: 38467968

Clinical prediction guides

Mitochondrial damage and clearance in retinal pigment epithelial cells.
Gurubaran IS
Acta Ophthalmol 2024 Mar;102 Suppl 282:3-53. doi: 10.1111/aos.16661. PMID: 38467968

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