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Article

Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.

Human mutation - 1 Apr 2012

Gutiérrez Cortés Nicolás, Pertuiset Claire, Dumon Elodie, Börlin Marine, Hebert-Chatelain Etienne, Pierron Denis, Feldmann Delphine, Jonard Laurence, Marlin Sandrine, Letellier Thierry, Rocher Christophe

Abstract excerpt

Some cases of maternally inherited isolated deafness are caused by mtDNA mutations, frequently following an exposure to aminoglycosides. Two mitochondrial genes have been clearly described as being affected by mutations responsible for this pathology: the ribosomal RNA 12S gene and the transfer RNA serine (UCN) gene. A previous study identified several candidate novel mtDNA mutations, localized in a variety of...

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PMID: 22241583
DOI: 10.1002/humu.22023

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UCN

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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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