✦ LIBER ✦

Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation

✍ Scribed by J. Finsterer

Book ID: 109338612
Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 598 KB
Volume: 116
Category: Article
ISSN: 0001-6314
DOI: 10.1111/j.1600-0404.2007.00836.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The expanding clinical phenotype of the

The expanding clinical phenotype of the tRNALeu(UUR) A→G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy

✍ Feigenbaum, Annette; Chitayat, David; Robinson, Brian; MacGregor, Daune; Myint, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

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

116 Bipolar disorder as the presenting c

116 Bipolar disorder as the presenting clinical feature of the 3243A>G mutation in the mitochondrial tRNALeu(UUR) gene

✍ Fernando Scaglia; Ricardo Diaz Millan; Chester W. Brown; Lee-Jun C. Wong 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 62 KB

87 Overexpression of mitochondrial Leucy

87 Overexpression of mitochondrial Leucyl-tRNA synthetase restore the mitochondrial dysfunctions caused by the MELAS-associated tRNALeu(UUR) A3243G mutation

✍ Ronghua Li; Min-Xin Guan 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 42 KB

Maternally transmitted diabetes mellitus

Maternally transmitted diabetes mellitus associated with the mitochondrial tRNALeu(UUR) A3243G mutation in a four-generation Han Chinese family

✍ Jianxin Lu; Dawang Wang; Ronghua Li; Weixing Li; Jingzhang Ji; Jing Zhao; Wei Ye 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 117 KB

Accumulation of Somatic Nucleotide Subst

Accumulation of Somatic Nucleotide Substitutions in Mitochondrial DNA Associated with the 3243 A-to-G tRNALeu(UUR)Mutation in Encephalomyopathy and Cardiomyopathy

✍ Sergey A. Kovalenko; Masashi Tanaka; Makoto Yoneda; Alexander F. Iakovlev; Takay 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 86 KB

The mitochondrial tRNALeu(UUR) A to G 32

The mitochondrial tRNALeu(UUR) A to G 3243 mutation is associated with insulin-dependent and non-insulin-dependent diabetes in a Chinese population

✍ Smith, P.R.; Dronsfield, M.J.; Mijovic, C.H.; Hattersley, A.T.; Yeung, V.T.F.; C 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB 👁 2 views

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