{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,29]],"date-time":"2025-11-29T16:24:35Z","timestamp":1764433475285,"version":"build-2065373602"},"reference-count":44,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T00:00:00Z","timestamp":1664150400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the Biomedical Research Institute, Jeonbuk National University Hospital","award":["2022R1C1C1006721"],"award-info":[{"award-number":["2022R1C1C1006721"]}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea (NRF) grant funded by the Korean government (MSIT)","doi-asserted-by":"publisher","award":["2022R1C1C1006721"],"award-info":[{"award-number":["2022R1C1C1006721"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Malignant hyperthermia (MH), a rare autosomal dominant pharmacogenetic disorder of skeletal muscle calcium regulation, is triggered by sevoflurane in susceptible individuals. We report a Korean having MH with multi-minicore myopathy functionally supported by RYR1-mediated intracellular Ca2+ release testing in B lymphocytes. A 14-year-old boy was admitted for the evaluation of progressive torticollis accompanied by cervicothoracic scoliosis. During the preoperative drape of the patient for the release of the sternocleidomastoid muscle under general anesthesia, his wrist and ankle were observed to have severe flexion contracture. The body temperature was 37.1 \u00b0C. To treat MH, the patient was administered a bolus of dantrolene intravenously (1.5 mg\/kg) and sodium bicarbonate. After a few minutes, muscle rigidity, tachycardia, and EtCO2 all resolved. Next-generation panel sequencing for hereditary myopathy identified a novel RYR1 heterozygous missense variant (NM_000540.2: c.6898T &gt; C; p.Ser2300Pro), which mapped to the MH2 domain of the protein, a hot spot for MH mutations. Ex vivo RYR1-mediated intracellular Ca2+ release testing in B lymphocytes showed hypersensitive Ca2+ responses to isoflurane and caffeine, resulting in an abnormal Ca2+ release only in the proband, not in his family members. Our findings expand the clinical and pathological spectra of information associated with MH with multi-minicore myopathy.<\/jats:p>","DOI":"10.3390\/genes13101726","type":"journal-article","created":{"date-parts":[[2022,9,27]],"date-time":"2022-09-27T23:12:12Z","timestamp":1664320332000},"page":"1726","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Gene Panel Sequencing Identifies a Novel RYR1 p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5285-7618","authenticated-orcid":false,"given":"Young Jae","family":"Moon","sequence":"first","affiliation":[{"name":"Department of Orthopedic Surgery, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Korea"},{"name":"Department of Biochemistry and Molecular Biology, Jeonbuk National University Medical School, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7354-4234","authenticated-orcid":false,"given":"Joonhong","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Korea"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung Ryul","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seung Yeob","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Korea"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaehyeon","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Korea"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong Gon","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Korea"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dal Sik","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Korea"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1097\/ALN.0b013e318190bb08","article-title":"Trends and outcomes of malignant hyperthermia in the United States, 2000 to 2005","volume":"110","author":"Rosero","year":"2009","journal-title":"Anesthesiology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1186\/s13023-015-0310-1","article-title":"Malignant hyperthermia: A review","volume":"10","author":"Rosenberg","year":"2015","journal-title":"Orphanet J. 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