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Article

Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia.

Nephron - 1 Jan 2020

Lorenz Robin, Ahting Uwe, Betzler Cornelia, Heimering Sigrid, Borggräfe Ingo, Lange-Sperandio Bärbel

Abstract excerpt

Autosomal-dominant tubulointerstitial kidney disease -(ADTKD) describes tubulointerstitial kidney disease with autosomal-dominant inheritance. In 2017, the term mitochondrial tubulointerstitial kidney disease (MITKD) was introduced for tubulointerstitial kidney disease caused by mitochondrial DNA (mtDNA) mutations. To date, there are few mutations described in literature causing MITKD, one of them is m.616T>C. A...

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PMID: 31722346
DOI: 10.1159/000504412

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