{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T23:25:30Z","timestamp":1767137130598,"version":"build-2238731810"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,3,30]],"date-time":"2017-03-30T00:00:00Z","timestamp":1490832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000871","name":"Mayo Clinic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Pathogenic variants in ryanodine receptor 1 (\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>\n                        1,\n                      <\/jats:italic>\n                      <jats:styled-content style=\"fixed-case\">MIM<\/jats:styled-content>\n                      # 180901) are the cause of congenital myopathy with fiber\u2010type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically. She was also diagnosed with ophthalmoplegia, chronic hypercapnic respiratory failure, and hypertension. At 22\u00a0years of age she presented to the genetics clinic with a diagnosis of mitochondrial myopathy and underwent whole exome sequencing (\n                      <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>\n                      ).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Whole exome sequencing revealed two novel compound heterozygous variants in\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>\n                        1\n                      <\/jats:italic>\n                      (c.7060_7062del, p.Val2354del and c.4485_4500del, p.Tyr1495X).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Review of her clinical, pathologic, and genetic findings pointed to a diagnosis of a congenital myopathy with fiber\u2010type disproportion.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.280","type":"journal-article","created":{"date-parts":[[2017,3,31]],"date-time":"2017-03-31T02:43:15Z","timestamp":1490928195000},"page":"295-302","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in\n                    <i>\n                      <scp>RYR<\/scp>\n                      1\n                    <\/i>"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0658-1275","authenticated-orcid":false,"given":"Patrick R.","family":"Blackburn","sequence":"first","affiliation":[{"name":"Center for Individualized Medicine Mayo Clinic Jacksonville Florida"},{"name":"Department of Health Sciences Research Mayo Clinic Jacksonville Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duygu","family":"Selcen","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8189-4189","authenticated-orcid":false,"given":"Jennifer M.","family":"Gass","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine Mayo Clinic Jacksonville Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica L.","family":"Jackson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic Jacksonville Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Macklin","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic Jacksonville 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Research Mayo Clinic Rochester Minnesota"},{"name":"Department of Clinical Genomics Mayo Clinic Rochester Minnesota"},{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elliot L.","family":"Dimberg","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic Jacksonville Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen D.","family":"Kennelly","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic Jacksonville Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8515-744X","authenticated-orcid":false,"given":"Paldeep S.","family":"Atwal","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine Mayo Clinic Jacksonville Florida"},{"name":"Department of Clinical Genomics Mayo Clinic Jacksonville 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