Article
A novel mutation in mitochondrial DNA in a patient with diabetes, deafness and proteinuria.
The Netherlands journal of medicine - 1 Dec 2016
Adema A Y, Janssen M C H, van der Heijden J W
Abstract excerpt
Maternally inherited deafness and diabetes (MIDD) is characterised by a defect in insulin secretion and bilateral hearing impairment. The m.3243A>G mutation is the most reported in mitochondrial DNA (mtDNA) causing MIDD, although other, rare, mtDNA point mutations have also been mentioned. We report on a 28-year-old Caucasian woman with a history of diabetes, kidney disease, deafness, diarrhoea, myopathy and...
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