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Article

Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene.

Bioscience reports - 1 Dec 2010

Mkaouar-Rebai Emna, Fendri-Kriaa Nourhene, Louhichi Nacim, Tlili Abdelaziz, Triki Chahnez, Ghorbel Abdelmoneem, Masmoudi Saber, Fakhfakh Faiza

Abstract excerpt

Sensorineural hearing loss has been described in association with different mitochondrial multisystemic syndromes, often characterized by an important neuromuscular involvement. Until now, mutations in mitochondrial DNA, especially in the 12S rRNA, the tRNASer(UCN) and the tRNALeu(UUR) genes, were implicated in syndromic or non-syndromic hearing loss either as a primary cause or as predisposing factors. In the...

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PMID: 20055758
DOI: 10.1042/BSR20090120

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

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