Renal complications in patients with diabetes mellitus associated with an A to G mutation of mitochondrial DNA at the 3243 position of leucine tRNA
β Scribed by S. Nakamura; M. Yoshinari; Y. Doi; H. Yoshizumi; R. Katafuchi; Y. Yokomizo; K. Nishiyama; M. Wakisaka; M. Fujishima
- Book ID
- 117371644
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 425 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0168-8227
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We describe a family which demonstrates and expands the extreme clinical variabilty now known to be associated with the A+G transition at nucleotide position 3243 of the mitochondrial DNA. The propositus presented at birth with clinical manifestations consistent with diabetic embryopathy including a
The A to G transition at nt.3243 of the tRNA Leu(UUR) gene of mtDNA, commonly associated with MELAS, was detected in several members of a family affected by a maternally inherited form of hypertrophic cardiomyopathy. These findings suggest adding cardiomyopathy in the list of phenotypes associated w