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Titel:

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

Dokumenttyp:
Case Reports
Autor(en):
Lorenz, Robin; Ahting, Uwe; Betzler, Cornelia; Heimering, Sigrid; Borggräfe, Ingo; Lange-Sperandio, Bärbel
Abstract:
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 5-year-old girl presented with chronic renal insufficiency and epilepsia. At the age...     »
Zeitschriftentitel:
Nephron
Jahr:
2020
Band / Volume:
144
Heft / Issue:
3
Seitenangaben Beitrag:
156-160
Volltext / DOI:
doi:10.1159/000504412
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/31722346
Print-ISSN:
1660-8151
TUM Einrichtung:
611; Institut für Humangenetik
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