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A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity
Ryanodine receptors plays a crucial role in skeletal muscle excitation-contraction coupling by releasing calcium ions required for muscle contraction from the sarcoplasmic reticulum. At least three phenotypes associated with more than 100 RYR1 mutations have been identified; in order to elucidate po...
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| Autori principali: | , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2008
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2662321/ https://ncbi.nlm.nih.gov/pubmed/19027160 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ceca.2008.10.001 |
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