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Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyperthermia were first identified in 1991. Since...
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| 出版年: | Skelet Muscle |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7667763/ https://ncbi.nlm.nih.gov/pubmed/33190635 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13395-020-00243-4 |
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