Article
Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation.
Diabetes - 1 Apr 1996
Velho G, Byrne M M, Clément K, Sturis J, Pueyo M E, Blanché H, Vionnet N, Fiet J, Passa P, Robert J J, Polonsky K S, Froguel P
Abstract excerpt
An A-to-G transition in the mitochondrial tRNALeu(UUR) gene at base pair 3243 has been shown to be associated with the maternally transmitted clinical phenotype of NIDDM and sensorineural hearing loss in white and Japanese pedigrees. We have detected this mutation in 25 of 50 tested members of fi...
Topics
- Adenine
- Adolescent
- Adult
- Aged
- Arginine
- Blood Glucose
- Body Mass Index
- C-Peptide
- Child
- Child, Preschool
- Deafness
- Diabetes Mellitus, Type 2
- Female
- Genomic Imprinting
- Glucose Tolerance Test