Article
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.
PLoS genetics - 1 Mar 2017
Connor Thomas M, Hoer Simon, Mallett Andrew, Gale Daniel P, Gomez-Duran Aurora, Posse Viktor, Antrobus Robin, Moreno Pablo, Sciacovelli Marco, Frezza Christian, Duff Jennifer, Sheerin Neil S, Sayer John A, Ashcroft Margaret, Wiesener Michael S, Hudson Gavin, Gustafsson Claes M, Chinnery Patrick F, Maxwell Patrick H
Abstract excerpt
Tubulointerstitial kidney disease is an important cause of progressive renal failure whose aetiology is incompletely understood. We analysed a large pedigree with maternally inherited tubulointerstitial kidney disease and identified a homoplasmic substitution in the control region of the mitochondrial genome (m.547A>T). While mutations in mtDNA coding sequence are a well recognised cause of disease affecting...
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