Maternally transmitted diabetes mellitus associated with the mitochondrial tRNALeu(UUR) A3243G mutation in a four-generation Han Chinese family
โ Scribed by Jianxin Lu; Dawang Wang; Ronghua Li; Weixing Li; Jingzhang Ji; Jing Zhao; Wei Ye; Li Yang; Yaping Qian; Yi Zhu; Min-Xin Guan
- Book ID
- 116293296
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 117 KB
- Volume
- 348
- Category
- Article
- ISSN
- 0006-291X
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๐ SIMILAR VOLUMES
The mitochondrial DNA tRNA Leu(UUR) A to G 3243 mutation is associated with maternally inherited diabetes in Caucasians and Japanese. In a Hong Kong Chinese population we have detected the 3243 mutation in 2 of 74 unrelated subjects with well characterized insulin-dependent (Type 1) diabetes mellitu
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