Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening

Mutations in mitochondrial DNA (mtDNA) are reported to be responsible for the pathogenesis of maternally inherited hearing loss. Complete mtDNA sequencing may detect pathogenic mutations, but whether they are indeed pathogenic can be difficult to interpret because of normal ethnic-associated haplogr...

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Detalles Bibliográficos
Autores principales: Yano, Takuya, Nishio, Shin-ya, Usami, Shin-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970901/
https://www.ncbi.nlm.nih.gov/pubmed/24401907
http://dx.doi.org/10.1038/jhg.2013.128

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970901/
https://www.ncbi.nlm.nih.gov/pubmed/24401907
http://dx.doi.org/10.1038/jhg.2013.128

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