A novel RYR1 pathogenic variant − Common among Libyan Jews and associated with a broad phenotypic spectrum-Reference-Cited by-同舟云学术

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A novel RYR1 pathogenic variant − Common among Libyan Jews and associated with a broad phenotypic spectrum

Published:2024-11 Issue: Volume:927 Page:148725
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Regev Miriam^ORCID,Dori Amir^ORCID,Altarescu Gheona^ORCID,Barel Ortal,Basel-Salmon Lina^ORCID,Greenbaum Lior,Fellner Avi^ORCID,Pras Elon,Shamash Jana,Meiner Vardiela,Bazak Lily,Goldberg Yael^ORCID

Publisher

Elsevier BV

Reference16 articles.

1. King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene;D'Arcy;Neurology,2008

2. Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization;Guis;Arch. Neurol.,2004

3. Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility;Johnston;Hum. Mol. Genet.,2022

4. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction;Jungbluth;Nat. Rev. Neurol.,2018

5. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies;Klein;Hum. Mutat.,2012

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