RYR1 mutations are also involved in a mild form of tubular aggregate myopathy

An Italian team reports the observations of two unrelated men, aged 30 and 39 years, complaining of muscle stiffness after sustained physical activity or exposure to cold accompanied by elevated CPKEnzyme contenue dans les cellules musculaires, qui est libérée dans le sang en cas d’atteinte musculaire. levels.

• Muscle biopsy revealed the presence of submembranous tubular aggregates in type 2 fibers, without any other histological abnormality, especially of the core type.
• After exclusion of a mutationModification soudaine et transmissible du matériel génétique. Elle peut être spontanée ou induite par des agents dits » mutagènes » (radiations, produits toxiques,…). in the coding sequences of the STIM1, ORAI1 and CASQ1 genes, a new generation sequencing targeting a panel of 20 genes involved in excitation-contraction coupling allowed the identification of two mutations in the RYR1 gene: the c.6617C>T mutation in exonPartie codante de l’ADN au sein d’un gène. 40 and the c.7300G>A mutation in exon 45, two variants considered as pathogenic in malignant hyperthermia

Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy. Vattemi GNA, Rossi D, Galli L et al. Eur J Neurosci. 2022 Jun 6.