Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice

Mutations in the ryanodine receptor 1 (RYR1) gene are associated with several human congenital myopathies, including the dominantly inherited central core disease and exercise-induced rhabdomyolysis, and the more severe recessive phenotypes, including multiminicore disease, centronuclear myopathy, a...

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Publicat a:J Biol Chem
Autors principals: Elbaz, Moran, Ruiz, Alexis, Nicolay, Sven, Tupini, Chiara, Bachmann, Christoph, Eckhardt, Jan, Benucci, Sofia, Pelczar, Pawel, Treves, Susan, Zorzato, Francesco
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2020
Matèries:
Molecular Bases of Disease
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7383393/
https://ncbi.nlm.nih.gov/pubmed/32499372
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA120.013846
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