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Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy

Physiological muscle contraction requires an intact ligand gating mechanism of the ryanodine receptor 1 (RyR1), the Ca(2+)-release channel of the sarcoplasmic reticulum. Some mutations impair the gating and thus cause muscle disease. The RyR1 mutation T4706M is linked to a myopathy characterized by...

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Detalles Bibliográficos
Autores principales:	Magyar, Zsuzsanna É., Hevesi, Judit, Groom, Linda, Dirksen, Robert T., Almássy, János
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10480487/ https://www.ncbi.nlm.nih.gov/pubmed/37670077 http://dx.doi.org/10.1038/s41598-023-41801-2

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