{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T03:41:35Z","timestamp":1771904495033,"version":"3.50.1"},"reference-count":23,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2024,10,18]],"date-time":"2024-10-18T00:00:00Z","timestamp":1729209600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,10,18]],"date-time":"2024-10-18T00:00:00Z","timestamp":1729209600000},"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:p>\n            PAX7 is a myogenesis transcription factor important for satellite cell specification and function and thus involved in muscle growth, maintenance, repair and regeneration. Recently, a new autosomal recessive congenital myopathy was described that is caused by biallelic variants in\n            <jats:italic>PAX7<\/jats:italic>\n            . Our aim is to describe phenotype and whole-body muscle MRI with follow-up imaging findings in a patient with a novel homozygous missense variant in\n            <jats:italic>PAX7.<\/jats:italic>\n            We also compare our patients\u2019 imaging features with a patient reported in the initial study, to identify a possible emerging pattern for PAX7-congenital myopathy. Generalized muscle hypotrophy and selective sternocleidomastoid, paraspinal and thigh muscle involvement emerge as suggestive findings and could serve as a recognizable fingerprint to differentiate early-onset myopathies within the emerging group of \u2018primary satellite cell-opathies\u2019.\n          <\/jats:p>","DOI":"10.1177\/22143602241289705","type":"journal-article","created":{"date-parts":[[2025,1,31]],"date-time":"2025-01-31T07:33:36Z","timestamp":1738308816000},"page":"1276-1282","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report"],"prefix":"10.1177","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1813-275X","authenticated-orcid":false,"given":"G\u00f6knur","family":"Halilo\u011flu","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey"},{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Donkervoort","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sibel \u00d6z","family":"Y\u0131ld\u0131z","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abigail","family":"Potticary","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Hu","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynn","family":"Pais","sequence":"additional","affiliation":[{"name":"Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA"},{"name":"Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert Y.","family":"Carlier","sequence":"additional","affiliation":[{"name":"Department of Radiology, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), DMU Smart Imaging, Raymond Poincar\u00e9 Teaching Hospital, Garches, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helge","family":"Amthor","sequence":"additional","affiliation":[{"name":"Service de Neurologie et R\u00e9 animation P\u00e9diatriques, AP-HP. Universit\u00e9 Paris-Saclay, H\u00f4pital Raymond Poincar\u00e9, Garches, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00dcst\u00fcn","family":"Ayd\u0131ng\u00f6z","sequence":"additional","affiliation":[{"name":"Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carsten G.","family":"B\u00f6nnemann","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,10,18]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.2040-4603.2015.tb00646.x"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.2174\/1389202920666190116094736"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.069088"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.114223"},{"key":"e_1_3_5_6_2","article-title":"The satellite cell at 60: the foundation years","volume":"8","author":"Engquist EN","year":"2021","unstructured":"Engquist EN, Zammit PS. The satellite cell at 60: the foundation years. 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Muscle MRI in muscular dystrophies. Acta Myol 2015; 34: 95\u2013108.","journal-title":"Acta Myol"},{"key":"e_1_3_5_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00023-8"},{"key":"e_1_3_5_18_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13395-020-00243-4"},{"key":"e_1_3_5_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2019.01.001"},{"key":"e_1_3_5_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21846"},{"key":"e_1_3_5_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24634"},{"key":"e_1_3_5_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25241"},{"key":"e_1_3_5_23_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cellbio.23.090506.123438"},{"key":"e_1_3_5_24_2","first-page":"12174","article-title":"Pax7 reporter mouse models: a pocket guide for satellite cell research","volume":"33","author":"Ortuste-Quiroga HP","year":"2023","unstructured":"Ortuste-Quiroga HP, Fujimaki S, Ono Y. 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