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- W4316466326 abstract "The RYR1 gene encodes the ryanodine-receptor 1, a key protein in the excitation-contraction coupling that takes place in muscle fibers. This receptor is the main channel responsible for calcium release from the endoplasmic reticulum [1]. A number of clinical phenotypes are linked to various mutations in this large gene as shown in a compilation established by ORPHANET (see table). In this work we describe two distinct, somewhat misleading, phenotypes in relation to pathogenic variants in this gene.La grande variabilité phénotypique des mutations du gène RYR1.Le gène RYR1 (Ryanodine-Receptor-1) code pour une protéine-clé dans le processus de couplage excitation-contraction de la fibre musculaire. Ce récepteur est le principal canal de libération du calcium à partir du réticulum endoplasmique [1]. Un certain nombre de phénotypes cliniques sont imputables aux mutations de ce gène de grande taille comme rappelé dans la liste établie par ORPHANET (voir Encadré). Nous décrivons, dans ce travail, deux phénotypes distincts, et trompeurs à certains égards, en rapport avec des mutations de ce gène." @default.
- W4316466326 created "2023-01-16" @default.
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- W4316466326 date "2022-12-01" @default.
- W4316466326 modified "2023-09-26" @default.
- W4316466326 title "La grande variabilité phénotypique des mutations du gène <i>RYR1</i>" @default.
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- W4316466326 doi "https://doi.org/10.1051/medsci/2022178" @default.
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