A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.
Segarra-Casas A, Iruzubieta P, Kapetanovic S, Hernández-Laín A, Jericó I, Fernández-Torrón R, Maneiro M, Marco-Moreno P, Zelaya-Huerta MV, Rodríguez-Santiago B, Calafell F, Töpf A, Straub V, Vallejo-Illarramendi A, López de Munain A, Gallano P, Gonzalez-Quereda L.
Segarra-Casas A, et al. Among authors: zelaya huerta mv.
Eur J Neurol. 2025 Jan;32(1):e16471. doi: 10.1111/ene.16471.
Eur J Neurol. 2025.
PMID: 39742415
Free PMC article.