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Article

Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy.

International journal of molecular sciences - 9 Oct 2024

Janßen Sören, Erbe Leoni S, Kneifel Moritz, Vorgerd Matthias, Döring Kristina, Lubieniecki Krzysztof P, Lubieniecka Joanna M, Gerding Wanda M, Casadei Nicolas, Güttsches Anne-Katrin, Heyer Christoph, Lücke Thomas, Nguyen Hoa Huu Phuc, Köhler Cornelia, Hoffjan Sabine

Abstract excerpt

Pathogenic variants in the ryanodine receptor 1 (RYR1) gene are causative for a wide spectrum of muscular phenotypes, ranging from malignant hyperthermia over mild, non-progressive to severe congenital myopathy. Both autosomal dominant and recessive inheritance can occur, with the more severe forms usually showing recessive inheritance. However, genotype-phenotype correlations are complicated due to the large...

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Identifiers

PMID: 39409197
DOI: 10.3390/ijms251910867
PMCID: PMC11477233

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