Novel Mitochondrial DNA Mutation in tRNALys(8296A → G) Associated with Diabetes
✍ Scribed by Keiichi Kameoka; Haruhiko Isotani; Koji Tanaka; Kanako Azukari; Yukari Fujimura; Yasushi Shiota; Eun Sasaki; Motoko Majima; Keizo Furukawa; Shinichi Haginomori; Haruko Kitaoka; Nakaaki Ohsawa
- Book ID
- 115581913
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 452 KB
- Volume
- 245
- Category
- Article
- ISSN
- 0006-291X
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We describe an 8-day-old baby girl presenting a fatal infantile form of hypertrophic obstructive cardiomyopathy, associated with an A8296G mutation in the mitochondrial tRNA Lys gene. She was born from a healthy unrelated couple, and was the first infant of dizygotic twins. Soon after birth, she was
## Paalman Transmitochondrial cybrid cell lines homoplasmic for the A8296G mtDNA transition, a mutation associated with several mitochondrial diseases, have a normal oxidative phosphorylation function, as shown by oxygen consumption, lactate production, respiratory enzyme activities, and growth usi