✦ LIBER ✦

Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease

✍ Scribed by Kraeva, Natalia; Zvaritch, Elena; Rossi, Ann E.; Goonasekera, Sanjeewa A.; Zaid, Hilal; Frodis, Wanda; Kraev, Alexander; Dirksen, Robert T.; MacLennan, David H.; Riazi, Sheila

Book ID: 122829026
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 910 KB
Volume: 23
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2012.08.007

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel RYR1 missense mutations in six Chi

Novel RYR1 missense mutations in six Chinese patients with central core disease

✍ Gu, Mei; Zhang, Shu; Hu, Jing; Yuan, Yun; Wang, Zhaoxia; Da, Yuwei; Wu, Shiwen 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 522 KB

Calcitonin gene-related peptide restores

Calcitonin gene-related peptide restores disrupted excitation–contraction coupling in myotubes expressing central core disease mutations in RyR1

✍ Ana Victoria Vega; Roberto Ramos-Mondragón; Aida Calderón-Rivera; Angel Zarain-H 📂 Article 📅 2011 🏛 Cambridge University Press 🌐 English ⚖ 688 KB

C.P.1 Central core disease with a novel

C.P.1 Central core disease with a novel RYR1 mutation in a Korean family

✍ Jung, N.Y.; Huh, S.Y.; Park, J.S.; Park, Y.E.; Shin, J.H.; Kim, D.S. 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 59 KB

Mutations in RYR1 in malignant hyperther

Mutations in RYR1 in malignant hyperthermia and central core disease

✍ Rachel Robinson; Danielle Carpenter; Marie-Anne Shaw; Jane Halsall; Philip Hopki 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 531 KB

The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is fundamental to the process of excitation-contraction coupling and skeletal muscle calcium homeostasis. Mapping to chromosome 19q13.2, the gene comprises 106 exons and encodes a protein of 5,038 amino acids. Mutations in the

Ryr1 mutations in canadian subjects with

Ryr1 mutations in canadian subjects with malignant hyperthermia and central core disease

✍ Natasha Kraeva; Wanda Frodis; Mary Lou Crossan; K. Nolan; JCP Loke; DH MacLennan 📂 Article 📅 2007 🏛 Springer-Verlag 🌐 French ⚖ 19 KB

0261 Central core disease is due to RyR1

0261 Central core disease is due to RyR1 mutations in more than 90% of patients

📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 130 KB