Article
Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia.
Nucleic acids research - 25 Feb 1992
van den Ouweland J M, Bruining G J, Lindhout D, Wit J M, Veldhuyzen B F, Maassen J A
Abstract excerpt
We have recently identified a point mutation in the mitochondrially encoded tRNA(Leu(UUR)) gene which associates with a combination of type II diabetes mellitus and sensorineural hearing loss in a large pedigree. To extend this finding to other syndromes which exhibit a combination of diabetes me...
Topics
- Base Sequence
- Chronic Disease
- DNA, Mitochondrial
- DNA, Ribosomal
- Female
- Genetic Linkage
- Humans
- Kearns-Sayre Syndrome
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Conformation
- RNA, Transfer
- Restriction Mapping
- Wolfram Syndrome