{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T19:06:57Z","timestamp":1790363217598,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,3,25]],"date-time":"2018-03-25T00:00:00Z","timestamp":1521936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GUP08005"],"award-info":[{"award-number":["GUP08005"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:p>Congenital myopathies (CMs) caused by mutation in cofilin\u20102 gene (<jats:italic>CFL2<\/jats:italic>) show phenotypic heterogeneity ranging from early\u2010onset and rapid progressive forms to milder myopathy. Muscle histology is also heterogeneous showing rods and\/or myofibrillar changes. Here, we report on three new cases, from two unrelated families, of severe CM related to novel homozygous or compound heterozygous loss\u2010of\u2010function mutations in <jats:italic>CFL2<\/jats:italic>. Peculiar histopathological changes showed nemaline bodies and thin filaments accumulations together to myofibrillar changes, which were evocative of the muscle findings observed in Cfl2<jats:sup>\u2212\/\u2212<\/jats:sup> knockout mouse model.<\/jats:p>","DOI":"10.1111\/cge.13240","type":"journal-article","created":{"date-parts":[[2018,2,21]],"date-time":"2018-02-21T17:22:47Z","timestamp":1519233767000},"page":"1234-1239","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Expanding the histopathological spectrum of <i>CFL2<\/i>\u2010related myopathies"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1820-8489","authenticated-orcid":false,"given":"F.","family":"Fattori","sequence":"first","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Fiorillo","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics Maternal and Child Health, University of Genoa  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Rodolico","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Tasca","sequence":"additional","affiliation":[{"name":"Istituto di Neurologia Universit\u00e0 Cattolica del Sacro Cuore, Fondazione Policlinico Universitario \"A. 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