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In vivo RyR1 reduction in muscle triggers a core-like myopathy

Abstract Mutations in the RYR1 gene, encoding the skeletal muscle calcium channel RyR1, lead to congenital myopathies, through expression of a channel with abnormal permeability and/or in reduced amount, but the direct functional whole organism consequences of exclusive reduction in RyR1 amount have...

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Autors principals: Laurent Pelletier, Anne Petiot, Julie Brocard, Benoit Giannesini, Diane Giovannini, Colline Sanchez, Lauriane Travard, Mathilde Chivet, Mathilde Beaufils, Candice Kutchukian, David Bendahan, Daniel Metzger, Clara Franzini Armstrong, Norma B. Romero, John Rendu, Vincent Jacquemond, Julien Fauré, Isabelle Marty
Format: Artigo
Idioma:Inglês
Publicat: BMC 2020-11-01
Col·lecció:Acta Neuropathologica Communications
Matèries:
Ryanodine receptor
Calcium
Skeletal muscle
Excitation–contraction coupling
Congenital myopathies
Central core disease
Accés en línia:http://link.springer.com/article/10.1186/s40478-020-01068-4
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