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Article

Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C.

Human molecular genetics - 6 Apr 2023

Baranowska Emilia, Niedzwiecka Katarzyna, Panja Chiranjit, Charles Camille, Dautant Alain, di Rago Jean-Paul, Tribouillard-Tanvier Déborah, Kucharczyk Roza

Abstract excerpt

The mitochondrial DNA mutation m.9032T>C was previously identified in patients presenting with NARP (Neuropathy Ataxia Retinitis Pigmentosa). Their clinical features had a maternal transmission and patient's cells showed a reduced oxidative phosphorylation capacity, elevated reactive oxygen species (ROS) production and hyperpolarization of the mitochondrial inner membrane, providing evidence that m.9032T>C is...

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PMID: 36434790
DOI: 10.1093/hmg/ddac292
PMCID: PMC10077503

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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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