Article
Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene.
FEBS letters - 26 Apr 1993
Gerbitz K D, Paprotta A, Jaksch M, Zierz S, Drechsel J
Abstract excerpt
A heteroplasmic point mutation (transition A-to-G at nucleotide position 3,243 in the mitochondrial tRNALeu(UUR) gene) is found in a family suffering from a syndrome with diabetes, deafness and cardiomyopathy as the predominant clinical features.
Topics
- Adolescent
- Adult
- Blotting, Southern
- Cardiomyopathies
- Child
- DNA, Mitochondrial
- Deafness
- Diabetes Mellitus
- Diabetes Mellitus, Type 1
- Diabetes Mellitus, Type 2
- Female
- Genes
- Humans
- Male
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction