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A novel sporadic mutation G14739A of the mitochondrial tRNAGlu in a girl with exercise intolerance

✍ Scribed by Johannes A. Mayr; Ali-Reza Moslemi; Holger Förster; Adrian Kamper; Carmen Idriceanu; Wolfgang Muss; Michael Huemer; Anders Oldfors; Wolfgang Sperl


Book ID
116792751
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
381 KB
Volume
16
Category
Article
ISSN
0960-8966

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Exercise intolerance associated with a n
✍ Michael J. Gambello; Ren-Kui Bai; Tian-Jian Chen; Mazen Dimachkie; Lee-Jun C. Wo 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 311 KB

## Abstract Mutations in the mitochondrial genome contribute to the pathophysiology of many neuromuscular diseases. Recently there has been an increased appreciation of the role of mitochondrial DNA (mtDNA) mutations in the etiology of exercise intolerance. Using TTGE (temporal temperature‐gradient