{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T15:04:53Z","timestamp":1788188693198,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,5,14]],"date-time":"2018-05-14T00:00:00Z","timestamp":1526256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction: MYH7<\/jats:italic> gene mutations are related to a heterogeneous group of skeletal and cardiac myopathies. <jats:italic>Methods<\/jats:italic>: We evaluated clinical and muscle MRI changes in patients with mutations in the rod domain of <jats:italic>MYH7<\/jats:italic>, including 1 with mosaicism and 3 with novel missense mutations. <jats:italic>Results<\/jats:italic>: Patients presented in childhood with a distal and axial phenotype. Biopsy findings were variable. Half of the cases displaying some type of core pathology, including minicores and eccentric cores. Most patients demonstrated internal bands of infiltration (\u201cinverted\u2010collagen\u2010VI sign\u201d) in multiple muscles, particularly the soleus, and prominent atrophy and fatty infiltration of the tongue and the paraspinal, gluteus minimus, sartorius, gracilis, tibialis anterior, and extensor digitorum longus muscles. <jats:italic>Discussion<\/jats:italic>: Muscle imaging findings in patients with axial involvement provide significant clues permitting the distinction between <jats:italic>MYH7<\/jats:italic>\u2010related myopathies and other axial myopathies such as those related to <jats:italic>SEPN1<\/jats:italic> and <jats:italic>LMNA<\/jats:italic> genes. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>58<\/jats:bold>: 224\u2013234, 2018<\/jats:p>","DOI":"10.1002\/mus.26137","type":"journal-article","created":{"date-parts":[[2018,4,6]],"date-time":"2018-04-06T22:35:27Z","timestamp":1523054127000},"page":"224-234","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Clinical and imaging hallmarks of the <i>MYH7<\/i>\u2010related myopathy with severe axial involvement"],"prefix":"10.1002","volume":"58","author":[{"given":"Ivana","family":"Dabaj","sequence":"first","affiliation":[{"name":"APHP, Service de Pediatrie, P\u00f4le Neuro\u2010locomoteur, H\u00f4pital Universitaire Raymond Poincar\u00e9\u2010Garches, Centre de Reference de Maladies Neuromusculaires Centre de r\u00e9f\u00e9rence des maladies neuromusculaires Nord\/Est\/Ile de  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert Y","family":"Carlier","sequence":"additional","affiliation":[{"name":"APHP, Service d'Imagerie M\u00e9dicale, P\u00f4le Neuro\u2010locomoteur, H\u00f4pital Universitaire Raymond Poincar\u00e9\u2010Garches; Centre de r\u00e9f\u00e9rence des maladies neuromusculaires Nord\/Est\/Ile de France, UMR 1179 Universit\u00e9 Paris Saclay  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5654-7791","authenticated-orcid":false,"given":"David","family":"G\u00f3mez\u2010Andr\u00e9s","sequence":"additional","affiliation":[{"name":"Child Neurology Unit, Hospital Universitari Vall d'Hebron, ERN\u2010RND \/ ERN\u2010NMD. Vall d'Hebron Institut de Recerca, Barcelona, Spain Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Os\u00f3rio Abath","family":"Neto","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, NIH Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Ges\u00fa Children's Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"D'amico","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Ges\u00fa Children's Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiana","family":"Fattori","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Ges\u00fa Children's Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"P\u00e9R\u00e9on","sequence":"additional","affiliation":[{"name":"APHP, Service d'Imagerie M\u00e9dicale, P\u00f4le Neuro\u2010locomoteur, H\u00f4pital Universitaire Raymond Poincar\u00e9\u2010Garches; 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