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

The skeletal muscle ryanodine receptor (RyR1), i.e., the Ca(2+) 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 ske...

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Detalles Bibliográficos
Autores principales: Zullo, Alberto, Perrotta, Giuseppa, D'Angelo, Rossana, Ruggiero, Lucia, Gravino, Elvira, Del Vecchio, Luigi, Santoro, Lucio, Salvatore, Francesco, Carsana, Antonella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6500691/
https://www.ncbi.nlm.nih.gov/pubmed/31165076
http://dx.doi.org/10.1155/2019/7638946

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6500691/
https://www.ncbi.nlm.nih.gov/pubmed/31165076
http://dx.doi.org/10.1155/2019/7638946

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