{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T04:51:52Z","timestamp":1789015912640,"version":"build-2803163510"},"reference-count":38,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      The accurate diagnosis of titin-related myopathies (\n                      <jats:italic>TTN<\/jats:italic>\n                      -RM) is challenging due to the \u201cgigantism\u201d of the coding gene\n                      <jats:italic>TTN<\/jats:italic>\n                      with an incompletely understood landscape of normal genetic variation, an increasing number of pathogenic variants, and wide phenotypic variability of both cardiac and muscle involvement. Particularly in situations of potentially incomplete genotypes, clinicians need more phenotyping tools to help confidently determine the pathogenicity of variants in\n                      <jats:italic>TTN<\/jats:italic>\n                      and accurately diagnose titinopathies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>\n                      To illustrate the pattern of muscle involvement found by muscle imaging in patients with\n                      <jats:italic>TTN-<\/jats:italic>\n                      RM.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      We reviewed the clinical and imaging data of patients with\n                      <jats:italic>TTN-<\/jats:italic>\n                      RM. Cross secitonal MR images of the lower extremity muscles were scored for degree of abnormality using the Mercuri scoring system and patterns were identified with comparison across muscle groups. Ultrasound images were also reviewed and described.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Eleven patients with\n                      <jats:italic>TTN-<\/jats:italic>\n                      RM had clinical and imaging data available for review. The relatively more severe involvement of the semitendinosus muscle in the hamstring group (\u201csemitendinosus sign\u201d) emerged as a consistent feature in patients with recessive\n                      <jats:italic>TTN<\/jats:italic>\n                      -RM despite clinical heterogeneity.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Here we find that despite considerable complexity, the pattern of muscle involvement on MRI and ultrasound may aid in the confirmation of\n                      <jats:italic>TTN<\/jats:italic>\n                      -RM by establishing compatibility with the diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602241283391","type":"journal-article","created":{"date-parts":[[2025,1,31]],"date-time":"2025-01-31T07:33:36Z","timestamp":1738308816000},"page":"1211-1220","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic\n                    <i>TTN-<\/i>\n                    related myopathy"],"prefix":"10.1177","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0237-1978","authenticated-orcid":false,"given":"LH","family":"Hayes","sequence":"first","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA"},{"name":"Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA"},{"name":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SB","family":"Neuhaus","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Donkervoort","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5313-9514","authenticated-orcid":false,"given":"P","family":"Mohassel","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA"},{"name":"Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2168-1119","authenticated-orcid":false,"given":"AR","family":"Foley","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Dastgir","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA"},{"name":"Atlantic Health System, Goryeb Children's Hospital, Morristown, NJ, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Bharucha-Goebel","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA"},{"name":"Division of Neurology, Children's National Hospital, Washington, DC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5599-3512","authenticated-orcid":false,"given":"ME","family":"Leach","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA"},{"name":"Division of Pediatric Neurology, Oregon Health and Science University, Portland, OR, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Vuillerot","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, H\u00f4pital Femme M\u00e8re Enfant, Paediatric Physical Medicine and Rehabilitation Department, NeuroMyog\u00e8ne Institute, Lyon University, Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ST","family":"Iannaccone","sequence":"additional","affiliation":[{"name":"UT Southwestern Medical Center Dallas, Dallas, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CM","family":"Grosmann","sequence":"additional","affiliation":[{"name":"Departments of Neurosciences and Pediatrics, School of Medicine, University of California, San Diego, Rady Children's Hospital, San Diego, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AH","family":"Beggs","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CG","family":"B\u00f6nnemann","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,11]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1161\/hh2301.100981"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.114.301286"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22611"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.2170\/physiolsci.RV005408"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1110186"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3010134"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3719"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1086\/342380"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/301752"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002200"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.11.002"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt494"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25241"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-309009"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.02.003"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-304728"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.9"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws103"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2017.4899"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a6ca62"},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7757-9"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000019"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2019.01.001"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00023-8"},{"issue":"2","key":"e_1_3_4_26_2","article-title":"Muscle MRI findings in limb girdle muscular dystrophy type 2L","volume":"22","author":"Sarkozy A","year":"2012","unstructured":"Sarkozy A, Deschauer M, Carlier RY, et al. Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscul Disord 2012; 22(Suppl 2): S122\u2013S129.","journal-title":"Neuromuscul Disord"},{"key":"e_1_3_4_27_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2003-44665"},{"key":"e_1_3_4_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.08.006"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21846"},{"key":"e_1_3_4_30_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-020-02257-0"},{"key":"e_1_3_4_31_2","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.50831"},{"key":"e_1_3_4_32_2","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12385"},{"key":"e_1_3_4_33_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0914-2"},{"key":"e_1_3_4_34_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr711"},{"key":"e_1_3_4_35_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-305394"},{"key":"e_1_3_4_36_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws102"},{"key":"e_1_3_4_37_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000324927.28817.9b"},{"key":"e_1_3_4_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.05.002"},{"key":"e_1_3_4_39_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00330-008-1071-1"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602241283391","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/22143602241283391","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602241283391","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:52:48Z","timestamp":1777506768000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/22143602241283391"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11]]},"references-count":38,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1177\/22143602241283391"],"URL":"https:\/\/doi.org\/10.1177\/22143602241283391","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11]]}}}