Study of a Brazilian Family Presenting Non-syndromic hearing loss with mitochondrial inheritance

We hereby report on the audiological and genetic findings in individuals from a Brazilian family, with the following mitochondrial mutation A1555G in the 12SrRNA gene (MT-RNR-1). Nine individuals underwent speech, audiologic (tonal audiometry and logoaudiometry) and genetic evaluations. Eight indivi...

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Detalles Bibliográficos
Autores principales: Pupo, Altair Cadrobbi, Pirana, Sulene, Spinelli, Mauro, Lezirovitz, Karina, Netto, Regina C. Mingroni, Macedo, Lisandra S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9445942/
https://www.ncbi.nlm.nih.gov/pubmed/19082364
http://dx.doi.org/10.1016/S1808-8694(15)31392-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9445942/
https://www.ncbi.nlm.nih.gov/pubmed/19082364
http://dx.doi.org/10.1016/S1808-8694(15)31392-6

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