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

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

<h4>Background/Aim</h4> <p>The rare mitochondrial DNA (mtDNA) variant m.8340G&gt;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 sensorineur...

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מידע ביבליוגרפי
Main Authors: Gill, JS, Hardy, SA, Blakely, EL, Hopton, S, Nemeth, AH, Fratter, C, Poulton, J, Taylor, RW, Downes, SM
פורמט: Journal article
שפה:English
יצא לאור: BMJ Publishing Group 2017

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