✦ LIBER ✦

Atypical MELAS associated with mitochondrial tRNALys gene A8296G mutation

✍ Scribed by Ryoichi Sakuta; Shiho Honzawa; Nobuyuki Murakami; Yuichi Goto; Toshiro Nagai

Book ID: 117591126
Publisher: Elsevier Science
Year: 2002
Tongue: English
Weight: 129 KB
Volume: 27
Category: Article
ISSN: 0887-8994
DOI: 10.1016/s0887-8994(02)00456-3

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel Mitochondrial DNA Mutation in tRNA

Novel Mitochondrial DNA Mutation in tRNALys(8296A → G) Associated with Diabetes

✍ Keiichi Kameoka; Haruhiko Isotani; Koji Tanaka; Kanako Azukari; Yukari Fujimura; 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 452 KB

Fatal hypertrophic cardiomyopathy associ

Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNALys gene

✍ Yukihiro Akita; Yasutoshi Koga; Rikako Iwanaga; Naoko Wada; Junko Tsubone; Seiic 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB 👁 1 views

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

Mitochondrial 3243 A→G mutation (MELAS m

Mitochondrial 3243 A→G mutation (MELAS mutation) associated with painful muscle stiffness

✍ M. Deschauer; T. Wieser; S. Neudecker; A. Lindner; S. Zierz 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 86 KB

Atypical clinical presentations of the A

Atypical clinical presentations of the A3243G mutation, usually associated with MELAS

✍ S. Blum; T. Robertson; S. Klingberg; R. D. Henderson; P. McCombe 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB

LHON/MELAS overlap syndrome associated w

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

✍ Blakely, Emma L; de Silva, Rajith; King, Andrew; Schwarzer, Verena; Harrower, Ti 📂 Article 📅 2005 🏛 Nature Publishing Group 🌐 English ⚖ 131 KB

A novel mutation (8342G→A) in the mitoch

A novel mutation (8342G→A) in the mitochondrial tRNALys gene associated with progressive external ophthalmoplegia and myoclonus

✍ Valeria Tiranti; Franco Carrara; Paolo Confalonieri; Marina Mora; Raffaele M Maf 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 892 KB