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

โœ Scribed by Gu, Mei; Zhang, Shu; Hu, Jing; Yuan, Yun; Wang, Zhaoxia; Da, Yuwei; Wu, Shiwen


Book ID
121784196
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
522 KB
Volume
566
Category
Article
ISSN
0304-3940

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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