Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation.

@article{Velho1996ClinicalPI,
  title={Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation.},
  author={Gilberto Velho and Maria M. Byrne and Karine Cl{\'e}ment and Jeppe Sturis and Maria E. Pueyo and H{\'e}l{\`e}ne Blanch{\'e} and Nathalie Vionnet and Jean Fiet and P. Passa and J. J. Shanthi Robert and Kenneth S. Polonsky and Phillipe Froguel},
  journal={Diabetes},
  year={1996},
  volume={45 4},
  pages={
          478-87
        }
}
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 five white French pedigrees. Affected (mutation-positive) family members presented variable clinical features, ranging from normal glucose tolerance (NGT) to insulin-requiring diabetes. The present report… CONTINUE READING
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