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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Detaylı Bibliyografya
Asıl Yazarlar: Ghassemi, Farshid, Vukcevic, Mirko, Xu, Le, Zhou, Haiyan, Meissner, Gerhard, Muntoni, Francesco, Jungbluth, Heinz, Zorzato, Francesco, Treves, Susan
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2008
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Article
Online Erişim: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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