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Article

Novel human mitochondrial tRNA phe mutation in a patient with hearing impairment: a case study.

Mitochondrial DNA - 1 Apr 2013

Dowlati Mohammad Ali, Derakhshandeh-Peykar Pupak, Houshmand Massoud, Farhadi Mohammad, Shojaei Azadeh, Bazzaz Javad Tavakkoly

Abstract excerpt

We present a patient with non-syndromic and sensorineural hearing impairment with a novel mitochondrial DNA transition. A 7-year-old boy showed progressive deafness. He gradually lost his hearing ability and his hearing function did not improve with hearing aids. Laboratory data revealed normal blood lactate and pyruvate levels. Genetic analyses for mitochondrial DNA and GJB2 and GJB6 genes were performed....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22979943
DOI: 10.3109/19401736.2012.717935

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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