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Article

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.

American journal of human genetics - 2 Nov 2012

Vedrenne Vanessa, Gowher Ali, De Lonlay Pascale, Nitschke Patrick, Serre Valérie, Boddaert Nathalie, Altuzarra Cecilia, Mager-Heckel Anne-Marie, Chretien Florence, Entelis Nina, Munnich Arnold, Tarassov Ivan, Rötig Agnès

Abstract excerpt

Multiple-respiratory-chain deficiency represents an important cause of mitochondrial disorders. Hitherto, however, mutations in genes involved in mtDNA maintenance and translation machinery only account for a fraction of cases. Exome sequencing in two siblings, born to consanguineous parents, with severe encephalomyopathy, choreoathetotic movements, and combined respiratory-chain defects allowed us to identify a...

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Identifiers

PMID: 23084291
DOI: 10.1016/j.ajhg.2012.09.001
PMCID: PMC3487136

Genes

PNPT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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