The high phenotypic variability of RYR1 gene mutations

被引：0

作者：

Kediha, Mohamed Islam ^{[1
]}

Nouioua, Sonia ^{[2
]}

Tazir, Meriem ^{[1
]}

Sternberg, Damien ^{[3
]}

Lunardi, Joel ^{[4
]}

Pacha, Lamia Ali ^{[1
]}

机构：

[1] CHU Mustapha Pacha Alger, Serv Neurol, Sidi Mhamed, Algeria

[2] EHS Cherchell Tipaza, Serv Neurol, Cherchell, Algeria

[3] Hop Pitie Salpetriere Paris, Unite Myogenet, Paris, France

[4] CHU Grenoble, Dept Biochim & Genet Mol, La Tronche, France

来源：

M S-MEDECINE SCIENCES | 2023年 / 38卷

关键词：

NEUROMUSCULAR-TRANSMISSION; CONGENITAL PTOSIS; OPHTHALMOPLEGIA; SCOLIOSIS; MYOPATHY; WEAKNESS;

D O I：

10.1051/medsci/2022178

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

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.

引用

页码：46 / 48

页数：3

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