Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant

BACKGROUND/AIM: The rare mitochondrial DNA (mtDNA) variant m.8340G>A has been previously reported in the literature in a single, sporadic case of mitochondrial myopathy. In this report, we aim to investigate the case of a 39-year-old male patient with sensorineural deafness who presented to the e...

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Detalles Bibliográficos
Autores principales: Gill, Jaidip S, Hardy, Steven A, Blakely, Emma L, Hopton, Sila, Nemeth, Andrea H, Fratter, Carl, Poulton, Joanna, Taylor, Robert W, Downes, Susan M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Laboratory Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574396/
https://www.ncbi.nlm.nih.gov/pubmed/28729369
http://dx.doi.org/10.1136/bjophthalmol-2017-310370

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