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Article

[The high phenotypic variability of RYR1 gene mutations].

Medecine sciences : M/S - 1 Dec 2022

Islam Kediha Mohamed, Nouioua Sonia, Tazir Meriem, Sternberg Damien, Lunardi Joël, Ali Pacha Lamia

Abstract excerpt

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...

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Identifiers

PMID: 36649637
DOI: 10.1051/medsci/2022178

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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