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Article

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

Gene - 15 Nov 2024

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

Abstract excerpt

Mutated skeletal muscle ryanodine receptor-1 (RYR1) gene is associated with a spectrum of autosomal dominant and recessive RyR1-related disorders with a wide phenotype. This report describes a variable phenotype associated with a previously unreported RYR1 frameshift pathogenic variant, (NM_000540.2) c.12815_12825del; p.Ala4272Glyfs*307, common in Libyan Jews. Clinical and genetic features of 14 carriers from 8...

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PMID: 38914246
DOI: 10.1016/j.gene.2024.148725

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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