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Article

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.

International journal of pediatric otorhinolaryngology - 1 Jan 2011

Kokotas Haris, Grigoriadou Maria, Yang Li, Lodahl Marianne, Rendtorff Nanna Dahl, Gyftodimou Yolanda, Korres George S, Ferekidou Elisabeth, Kandiloros Dimitrios, Korres Stavros, Tranebjærg Lisbeth, Guan Min-Xin, Petersen Michael B

Abstract excerpt

OBJECTIVE: Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation. METHODS: Clinical, cytogenetic, and molecular methods were employed in this...

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Source

Identifiers

PMID: 21056478
DOI: 10.1016/j.ijporl.2010.10.016

Genes

GJB2
UCN

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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