A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps

[Background and purpose] Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately determine its correlation with clinical...

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Detalles Bibliográficos
Autores: Segarra-Casas, Alba, Iruzubieta, Pablo, Kapetanovic, Solange, Hernández-Laín, Aurelio, Jericó, Ivonne, Fernández-Torrón, Roberto, Maneiro, Miren, Marco-Moreno, Pablo, Zelaya-Huerta, M. Victoria, Rodríguez-Santiago, Benjamín, Calafell, Francesc, Töpf, Ana, Straub, Volker, Vallejo-Illarramendi, Ainara, López de Munain, Adolfo, Gallano, Pia, González-Quereda, Lidia
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2025
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/390587
Acceso en línea:http://hdl.handle.net/10261/390587
https://api.elsevier.com/content/abstract/scopus_id/85213982600
Access Level:acceso abierto
Palabra clave:Myalgia
RYR1‐related myopathies
Exercise intolerance
HyperCKemia
Descripción
Sumario:[Background and purpose] Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately determine its correlation with clinical features and to explore the possible founder effect of the variant.

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