{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:46:30Z","timestamp":1792658790636,"version":"4.5.0"},"reference-count":28,"publisher":"American Medical Association (AMA)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arch Neurol"],"published-print":{"date-parts":[[2011,9,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      To establish the consistency of the previously reported pattern of muscle involvement in a large cohort of patients with molecularly defined ryanodine receptor type 1 (\n                      <jats:italic>RYR1<\/jats:italic>\n                      )\u2013related myopathies, to identify possible additional patterns, and to compare magnetic resonance imaging (MRI) findings with clinical and genetic findings.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>\n                      Blinded analysis of muscle MRI patterns of patients with congenital myopathies with dominant or recessive\n                      <jats:italic>RYR1<\/jats:italic>\n                      mutations and control patients without\n                      <jats:italic>RYR1<\/jats:italic>\n                      mutations. We compared MRI findings with the previously reported pattern of muscle involvement.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>Data from 3 tertiary referral centers.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>\n                      Thirty-seven patients with dominant or recessive\n                      <jats:italic>RYR1<\/jats:italic>\n                      mutations and 23 controls with other myopathies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main Outcome Measures<\/jats:title>\n                    <jats:p>Each MRI was classified as typical if it was identical to the reported pattern, consistent if it was similar to the reported one but with some additional features, or different. Images with no or few changes were classified as uninformative.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Twenty-one of 37 patients with\n                      <jats:italic>RYR1<\/jats:italic>\n                      mutations had a typical pattern; 13 had a consistent pattern. Two patients had uninformative MRIs and only 1 had a different pattern. Compared with patients with dominant mutations, patients with recessive mutations and ophthalmoparesis had a more diffuse pattern, classified as consistent in 6 of 8. In contrast, 10 of 11 with recessive mutations but without ophthalmoparesis had a typical pattern. All MRIs of 23 control patients were classified as different.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our results suggest that muscle MRI is a powerful predictor of\n                      <jats:italic>RYR1<\/jats:italic>\n                      involvement in patients with a congenital myopathy, especially if they carry a dominant mutation or recessive mutations without ophthalmoparesis.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1001\/archneurol.2011.188","type":"journal-article","created":{"date-parts":[[2011,9,12]],"date-time":"2011-09-12T16:30:36Z","timestamp":1315845036000},"page":"1171","source":"Crossref","is-referenced-by-count":86,"title":["Muscle Magnetic Resonance Imaging in Congenital Myopathies Due to Ryanodine Receptor Type 1 Gene Mutations"],"prefix":"10.1001","volume":"68","author":[{"given":"Andrea","family":"Klein","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Clement","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Lillis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Abbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pinki","family":"Munot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marika","family":"Pane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Wraige","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"key":"ref-noc15020-1","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1186\/1750-1172-2-25","article-title":"Central core disease.","volume":"2","author":"Jungbluth","year":"2007","journal-title":"Orphanet J Rare Dis"},{"issue":"12","key":"ref-noc15020-2","doi-asserted-by":"publisher","first-page":"1930","DOI":"10.1212\/01.wnl.0000188870.37076.f2","article-title":"Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.","volume":"65","author":"Jungbluth","year":"2005","journal-title":"Neurology"},{"issue":"pt 8","key":"ref-noc15020-3","doi-asserted-by":"crossref","first-page":"2024","DOI":"10.1093\/brain\/awm096","article-title":"Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.","volume":"130","author":"Zhou","year":"2007","journal-title":"Brain"},{"issue":"7","key":"ref-noc15020-4","doi-asserted-by":"publisher","first-page":"E1544","DOI":"10.1002\/humu.21278","article-title":"Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.","volume":"31","author":"Clarke","year":"2010","journal-title":"Hum Mutat"},{"issue":"5","key":"ref-noc15020-5","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1002\/ana.22119","article-title":"RYR1 mutations are a common cause of congenital myopathies with central nuclei.","volume":"68","author":"Wilmshurst","year":"2010","journal-title":"Ann Neurol"},{"issue":"11","key":"ref-noc15020-6","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1016\/j.nmd.2004.07.007","article-title":"111th ENMC International Workshop on Multi-minicore Disease: 2nd International MmD Workshop, 9-11 November 2002, Naarden, the Netherlands.","volume":"14","author":"Jungbluth","year":"2004","journal-title":"Neuromuscul Disord"},{"issue":"10","key":"ref-noc15020-7","doi-asserted-by":"publisher","first-page":"930","DOI":"10.1016\/S0960-8966(02)00135-9","article-title":"The spectrum of pathology in central core disease.","volume":"12","author":"Sewry","year":"2002","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"ref-noc15020-8","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.nmd.2009.12.005","article-title":"Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.","volume":"20","author":"Zhou","year":"2010","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"ref-noc15020-9","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1212\/WNL.59.2.284","article-title":"Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.","volume":"59","author":"Jungbluth","year":"2002","journal-title":"Neurology"},{"issue":"5","key":"ref-noc15020-10","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1002\/humu.20696","article-title":"Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.","volume":"29","author":"Monnier","year":"2008","journal-title":"Hum Mutat"},{"issue":"2","key":"ref-noc15020-11","first-page":"70","article-title":"Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.","volume":"24","author":"Romero","year":"2005","journal-title":"Acta Myol"},{"issue":"1","key":"ref-noc15020-12","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1007\/s00415-009-0105-1","article-title":"Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.","volume":"256","author":"Voermans","year":"2009","journal-title":"J Neurol"},{"issue":"2","key":"ref-noc15020-13","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1002\/ana.v67:2","article-title":"Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine.","volume":"67","author":"Mercuri","year":"2010","journal-title":"Ann Neurol"},{"issue":"12","key":"ref-noc15020-14","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1016\/j.nmd.2004.08.006","article-title":"Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.","volume":"14","author":"Jungbluth","year":"2004","journal-title":"Neuromuscul Disord"},{"issue":"12","key":"ref-noc15020-15","doi-asserted-by":"publisher","first-page":"2217","DOI":"10.1212\/01.wnl.0000249151.45200.71","article-title":"Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene.","volume":"67","author":"Fischer","year":"2006","journal-title":"Neurology"},{"issue":"6","key":"ref-noc15020-16","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1053\/ejpn.2002.0617","article-title":"A short protocol for muscle MRI in children with muscular dystrophies.","volume":"6","author":"Mercuri","year":"2002","journal-title":"Eur J Paediatr Neurol"},{"issue":"2","key":"ref-noc15020-17","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1002\/(ISSN)1522-2586","article-title":"Muscle MRI in inherited neuromuscular disorders: past, present, and future.","volume":"25","author":"Mercuri","year":"2007","journal-title":"J Magn Reson Imaging"},{"issue":"7-8","key":"ref-noc15020-18","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1016\/S0960-8966(02)00023-8","article-title":"Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).","volume":"12","author":"Mercuri","year":"2002","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"ref-noc15020-19","doi-asserted-by":"publisher","first-page":"859","DOI":"10.1086\/508500","article-title":"Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.","volume":"79","author":"Zhou","year":"2006","journal-title":"Am J Hum Genet"},{"issue":"4","key":"ref-noc15020-20","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/j.nmd.2010.01.014","article-title":"Centronuclear myopathies: a widening concept.","volume":"20","author":"Romero","year":"2010","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"ref-noc15020-21","doi-asserted-by":"publisher","first-page":"e31","DOI":"10.1111\/j.1468-1331.2008.02094.x","article-title":"Novel RYR1 missense mutation causes core rod myopathy.","volume":"15","author":"von der Hagen","year":"2008","journal-title":"Eur J Neurol"},{"issue":"4","key":"ref-noc15020-22","doi-asserted-by":"publisher","first-page":"658","DOI":"10.1007\/s00415-009-5413-y","article-title":"Autosomal dominant nemaline myopathy caused by a novel a-tropomyosin 3 mutation.","volume":"257","author":"Kiphuth","year":"2010","journal-title":"J Neurol"},{"issue":"3","key":"ref-noc15020-23","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1002\/ana.v63:3","article-title":"Mutations in TPM3 are a common cause of congenital fiber type disproportion.","volume":"63","author":"Clarke","year":"2008","journal-title":"Ann Neurol"},{"issue":"1","key":"ref-noc15020-24","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1016\/j.nmd.2006.09.013","article-title":"MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement.","volume":"17","author":"Schessl","year":"2007","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"ref-noc15020-25","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1016\/j.nmd.2010.02.016","article-title":"Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.","volume":"20","author":"Susman","year":"2010","journal-title":"Neuromuscul Disord"},{"issue":"12","key":"ref-noc15020-26","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1016\/j.nmd.2004.08.005","article-title":"Magnetic resonance imaging of muscle in nemaline myopathy.","volume":"14","author":"Jungbluth","year":"2004","journal-title":"Neuromuscul Disord"},{"issue":"10","key":"ref-noc15020-27","doi-asserted-by":"publisher","first-page":"2447","DOI":"10.1007\/s00330-010-1799-2","article-title":"Neuromuscular imaging in inherited muscle diseases.","volume":"20","author":"Wattjes","year":"2010","journal-title":"Eur Radiol"},{"issue":"7","key":"ref-noc15020-28","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1089\/ars.2009.2890","article-title":"Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis.","volume":"12","author":"Arbogast","year":"2010","journal-title":"Antioxid Redox Signal"}],"container-title":["Archives of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamaneurology\/articlepdf\/1107864\/noc15020_1171_1179_1678139637.87316.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T17:30:33Z","timestamp":1678123833000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamaneurology\/fullarticle\/1107864"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,1]]},"references-count":28,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2011,9,1]]}},"URL":"https:\/\/doi.org\/10.1001\/archneurol.2011.188","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.13357191.14726532","asserted-by":"object"}]},"ISSN":["0003-9942"],"issn-type":[{"value":"0003-9942","type":"print"}],"subject":[],"published":{"date-parts":[[2011,9,1]]}}}