Ontology highlight
ABSTRACT:
SUBMITTER: Komlosi K
PROVIDER: S-EPMC3565634 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Komlósi Katalin K Maász Anita A Kisfali Péter P Hadzsiev Kinga K Bene Judit J Melegh Béla I BI Melegh Béla B Ablonczy Mária M Németh Krisztina K Fekete György G
JIMD reports 20121102
The m.7510T>C mitochondrial DNA (mtDNA) mutation is a tRNA(Ser(UCN)) alteration leading to matrilineal isolated hearing impairment. The current paper reviews the available reports on the m.7510T>C mtDNA mutation, with special attention to phenotypic variations and haplogroup background. A Hungarian family, the fourth family reported in the literature, is presented, in which analysis of three generations with bilateral isolated hearing loss revealed the m.7510T>C tRNA(Ser(UCN)) mutation in homopl ...[more]