✦ LIBER ✦

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

✍ Scribed by Blakely, Emma L; de Silva, Rajith; King, Andrew; Schwarzer, Verena; Harrower, Tim; Dawidek, Gervase; Turnbull, Douglass M; Taylor, Robert W

Book ID: 110026168
Publisher: Nature Publishing Group
Year: 2005
Tongue: English
Weight: 131 KB
Volume: 13
Category: Article
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5201363

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

MELAS/SANDO overlap syndrome associated

MELAS/SANDO overlap syndrome associated with POLG1 mutations

✍ Niels Hansen; Thomas Zwarg; Isabel Wanke; Stephan Zierz; Oliver Kastrup; Marcus 📂 Article 📅 2011 🏛 Springer Milan 🌐 English ⚖ 225 KB

Sporadic MERRF/MELAS overlap syndrome as

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNALeu(UUR) mutation of mitochondrial DNA

✍ Yolanda Campos; Miguel Angel Martin; Gustavo Lorenzo; Manuel Aparicio; Ana Cabel 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 378 KB 👁 1 views

## ~~ We studied a patient with a rnitochondrial encephalomyopathy characterized by the presence of all the cardinal features of both myoclonic epilepsy and ragged-red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndromes. Muscle biopsy show

Atypical MELAS associated with mitochond

Atypical MELAS associated with mitochondrial tRNALys gene A8296G mutation

✍ Ryoichi Sakuta; Shiho Honzawa; Nobuyuki Murakami; Yuichi Goto; Toshiro Nagai 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 129 KB

A Novel Point Mutation in the Mitochondr

A Novel Point Mutation in the Mitochondrial tRNASer(UCN) Gene Detected in a Family with MERRF/MELAS Overlap Syndrome

✍ M. Nakamura; S. Nakano; Y. Goto; M. Ozawa; Y. Nagahama; H. Fukuyama; I. Akiguchi 📂 Article 📅 1995 🏛 Elsevier Science 🌐 English ⚖ 475 KB

MELAS syndrome associated with both A324

MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions

✍ Sharon Aharoni; Teres A. Traves; Eldad Melamed; Sarit Cohen; Esther Leshinsky Si 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 422 KB

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