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Polar body mutation load analysis in a patient with A3243G tRNALeu(UUR) point mutation

✍ Scribed by Mado Vandewoestyne; Björn Heindryckx; Trees Lepez; Rudy Van Coster; Jan Gerris; Petra De Sutter; Dieter Deforce

Book ID
116752221
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
178 KB
Volume
11
Category
Article
ISSN
1567-7249

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✍ Chin-Yuan Tzen; Peterus Thajeb; Tsu-Yen Wu; Shiu-Ching Chen 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 252 KB

## Abstract The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episode (MELAS) is typically associated with a single point mutation in the mitochondrial genome (mtDNA). Because mtDNA is known to have a higher mutation rate than nuclear DNA, we speculate that some pati