Maternally inherited diabetes and deafness (MIDD): A distinct subtype of diabetes associated with a mitochondrial tRNALeu(UUR) gene point mutation
- 1 January 1995
- journal article
- review article
- Published by Wiley in Muscle & Nerve
- Vol. 18 (S14), S124-S130
- https://doi.org/10.1002/mus.880181425
Abstract
We have recently described a mitochondrial DNA (mtDNA) point mutation at np 3243 in the tRNALeu(UUR) gene in a large Dutch pedigree with maternally inherited diabetes mellitus and deafness (MIDD) illustrating the importance of mitochondrial function in maintenance of a proper glucose homeostasis. In this review we will focus on the prevalence of the mtDNA mutation at np 3243 in diabetic populations, as well as postulate some working models for its pathogenicity. © 1995 John Wiley & Sons, Inc.This publication has 34 references indexed in Scilit:
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