A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca(2+) channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca(2+)-dependent muscle contraction. Abnormal RyR1 activity compromises normal muscle function and results in various human disorders incl...

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Detalles Bibliográficos
Autores principales: Biancalana, Valérie, Rendu, John, Chaussenot, Annabelle, Mecili, Helen, Bieth, Eric, Fradin, Mélanie, Mercier, Sandra, Michaud, Maud, Nougues, Marie-Christine, Pasquier, Laurent, Sacconi, Sabrina, Romero, Norma B., Marcorelles, Pascale, Authier, François Jérôme, Gelot Bernabe, Antoinette, Uro-Coste, Emmanuelle, Cances, Claude, Isidor, Bertrand, Magot, Armelle, Minot-Myhie, Marie-Christine, Péréon, Yann, Perrier-Boeswillwald, Julie, Bretaudeau, Gilles, Dondaine, Nicolas, Bouzenard, Alison, Pizzimenti, Mégane, Eymard, Bruno, Ferreiro, Ana, Laporte, Jocelyn, Fauré, Julien, Böhm, Johann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8447513/
https://www.ncbi.nlm.nih.gov/pubmed/34535181
http://dx.doi.org/10.1186/s40478-021-01254-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8447513/
https://www.ncbi.nlm.nih.gov/pubmed/34535181
http://dx.doi.org/10.1186/s40478-021-01254-y

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