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These patients were clinically evaluated and underwent routine laboratory investigations, electrophysiologic tests, muscle biopsy and muscle magnetic resonance imaging (MRI). They reported stiffness of the muscles following sustained activity or cold exposure and had serum creatine kinase elevation. The identified\n                    <jats:italic>RYR1<\/jats:italic>\n                    mutations (p.Thr2206Met or p.Gly2434Arg, in patient 1 and patient 2, respectively) were previously identified in individuals with malignant hyperthermia susceptibility and are reported as causative according to the European Malignant Hyperthermia Group rules. To our knowledge, these data represent the first identification of causative mutations in the\n                    <jats:italic>RYR1<\/jats:italic>\n                    gene in patients with tubular aggregate myopathy and extend the spectrum of histological alterations caused by mutation in the\n                    <jats:italic>RYR1<\/jats:italic>\n                    gene.\n                  <\/jats:p>","DOI":"10.1111\/ejn.15728","type":"journal-article","created":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T12:43:40Z","timestamp":1654519420000},"page":"4214-4223","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Ryanodine receptor 1 (\n                    <i>RYR1<\/i>\n                    ) mutations in two patients with tubular aggregate myopathy"],"prefix":"10.1111","volume":"56","author":[{"given":"Gaetano Nicola Alfio","family":"Vattemi","sequence":"first","affiliation":[{"name":"Department of 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