The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.

doi:10.1007/s004310051009

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Article

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.

European journal of pediatrics - 1 Jan 1999

Parfait B, de Lonlay P, von Kleist-Retzow J C, Cormier-Daire V, Chrétien D, Rötig A, Rabier D, Saudubray J M, Rustin P, Munnich A

Abstract excerpt

UNLABELLED: Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G). Since plasma citrulline was...

Topics

Adenosine Triphosphatases
Ataxia
Citrulline
DNA, Mitochondrial
Female
Humans
Infant
Infant, Newborn
Intestine, Small
Male
Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle Weakness

Mutation

Oxidative Phosphorylation

Pedigree

Retinitis Pigmentosa

Syndrome

Source

Open in PubMed

Identifiers

PMID: 9950309
DOI: 10.1007/s004310051009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9950309-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.PMID 9950309Read ↗

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