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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...
Gardado en:
| Publicado en: | J Biol Chem |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
American Society for Biochemistry and Molecular Biology
2020
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| Assuntos: | |
| Acceso en liña: | 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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