Single-channel properties of skeletal muscle ryanodine receptor pore Δ(4923)FF(4924) in two brothers with a lethal form of fetal akinesia

Ryanodine receptor ion channels (RyR1s) release Ca(2+) ions from the sarcoplasmic reticulum to regulate skeletal muscle contraction. By whole-exome sequencing, we identified the heterozygous RYR1 variant c.14767_14772del resulting in the in-frame deletion p.(Phe4923_Phe4924del) in two brothers with...

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Publicado no:Cell Calcium
Main Authors: Xu, Le, Harms, Frederike L., Chirasani, Venkat R., Pasek, Daniel A, Kortüm, Fanny, Meinecke, Peter, Dokholyan, Nikolay V., Kutsche, Kerstin, Meissner, Gerhard
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7216825/
https://ncbi.nlm.nih.gov/pubmed/32097819
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ceca.2020.102182
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