Mitochondrial tRNALeu(UUR) mutation at position 3243 detected in patients with type 1 diabetes
โ Scribed by Y. Suzuki; Y. Atsumi; K. Matsuoka; K. Nishimaki; S. Ohta; M. Taniyama; T. Muramatsu
- Book ID
- 116405296
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 81 KB
- Volume
- 67
- Category
- Article
- ISSN
- 0168-8227
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๐ SIMILAR VOLUMES
Some patients with Type 2 (non-insulin-dependent) diabetes mellitus possess a mitochondrial mutation in the tRNA Leu(UUR) gene at position 3243 bp. These subjects show a maternal mode of inheritance and often have hearing defects. In French and Japanese populations, this mutation may be present in 1
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