RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families

RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families

The skeletal muscle ryanodine receptor (RyR1), i.e., the Ca2+ channel of the sarco/endoplasmic reticulum (S/ER), and the voltage-dependent calcium channel Cav1.1 are the principal channels involved in excitation-contraction coupling in skeletal muscle. RYR1 gene variants are linked to distinct skele...

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Bibliographic Details
Main Authors: Alberto Zullo, Giuseppa Perrotta, Rossana D'Angelo, Lucia Ruggiero, Elvira Gravino, Luigi Del Vecchio, Lucio Santoro, Francesco Salvatore, Antonella Carsana
Format: Article
Language:English
Published: Hindawi Limited 2019-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2019/7638946

Internet

http://dx.doi.org/10.1155/2019/7638946

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