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Article

Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene.

The Journal of biological chemistry - 2 Mar 2001

Nijtmans L G, Henderson N S, Attardi G, Holt I J

Abstract excerpt

Mutations in human mitochondrial DNA are a well recognized cause of disease. A mutation at nucleotide position 8993 of human mitochondrial DNA, located within the gene for ATP synthase subunit 6, is associated with the neurological muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome...

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Source

Identifiers

PMID: 11076946
DOI: 10.1074/jbc.M008114200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11076946-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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