General Information:

Id: 5,777 (click here to show other Interactions for entry)
Diseases: NARP syndrome - [OMIM]
Homo sapiens
article
Reference: Miyawaki T et al.(2015) [A case of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome with a novel mitochondrial mutation m.8729 G>A] Rinsho Shinkeigaku 55: 91-95 [PMID: 25746071]

Interaction Information:

Comment A patient is reported having classical clinical feature of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) and a novel mutation, m.8729 G>A in mitochondria DNA.
Formal Description
Interaction-ID: 54926

gene/protein mutant

MT-ATP6-n.G8729A

decreases_activity of

gene/protein

MT-ATP6