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

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 never be...

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Enregistré dans:
Détails bibliographiques
Publié dans:Acta Neuropathol Commun
Auteurs principaux: Pelletier, Laurent, Petiot, Anne, Brocard, Julie, Giannesini, Benoit, Giovannini, Diane, Sanchez, Colline, Travard, Lauriane, Chivet, Mathilde, Beaufils, Mathilde, Kutchukian, Candice, Bendahan, David, Metzger, Daniel, Franzini Armstrong, Clara, Romero, Norma B., Rendu, John, Jacquemond, Vincent, Fauré, Julien, Marty, Isabelle
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2020
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7657350/
https://ncbi.nlm.nih.gov/pubmed/33176865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-020-01068-4
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