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pro vyhledávání: '"Isabel Christina Lopez Mejia"'
Autor:
Jeremy Vidal, Eric Fernandez, Martin Wohlwend, Pirkka-Pekka Laurila, Andrea Lopez Mejia, Julien Ochala, Isabel Christina Lopez Mejia, Johannes Alexandre Lobrinus, Bengt Kayser, Nicolas Place, Nadège Zanou
Decreased ryanodine receptor type 1 (RyR1) protein is a hallmark of recessiveRYR1-related myopathies (RyR1-RM), which are caused by recessive mutations in theRYR1gene. It is not clear how the decrease in the RyR1 protein triggers muscular disorders.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::925ef817ae4eb1e539442ceadc0c3884
https://doi.org/10.1101/2023.02.01.23285343
https://doi.org/10.1101/2023.02.01.23285343
