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Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

✍ Scribed by M.R Davis; E Haan; H Jungbluth; C Sewry; K North; F Muntoni; T Kuntzer; P Lamont; A Bankier; P Tomlinson; A Sánchez; P Walsh; L Nagarajan; C Oley; A Colley; A Gedeon; R Quinlivan; J Dixon; D James; C.R Müller; N.G Laing


Book ID
117669689
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
273 KB
Volume
13
Category
Article
ISSN
0960-8966

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Two central core disease (CCD) deletions
✍ Alla D. Lyfenko; Sylvie Ducreux; Ying Wang; Le Xu; Francesco Zorzato; Ana Ferrei 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 411 KB

Central core disease (CCD) and malignant hyperthermia (MH) are skeletal muscle disorders that are linked to mutations in the gene that encodes the type 1 ryanodine receptor (RYR1). The RYR1 ion channel plays a central role in excitation-contraction (EC) coupling by releasing Ca(2+) from an internal