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Article

Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation.

Muscle & nerve. Supplement - 1 Jan 1995

van den Ouweland J M, Lemkes H H, Gerbitz K D, Maassen J A

Abstract excerpt

We have recently described a mitochondrial DNA (mtDNA) point mutation at np 3243 in the tRNA(Leu)(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...

Topics

Base Sequence
DNA, Mitochondrial
Deafness
Diabetes Complications
Diabetes Mellitus
Glucose
Humans
Insulin
Mitochondria
Molecular Sequence Data
Mothers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Point Mutation

RNA, Transfer, Leu

Source

Identifiers

PMID: 7603513
DOI: 10.1002/mus.880181425

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7603513-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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