{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T06:17:24Z","timestamp":1790749044180,"version":"4.1.0"},"reference-count":228,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2020,5,24]],"date-time":"2020-05-24T00:00:00Z","timestamp":1590278400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic spectrum and contributed to a more genetically based approach for their classification. Later onset forms of CMs are increasingly recognised. They are often considered milder with slower progression, variable clinical presentations and different modes of inheritance. We reviewed the key features and genetic basis of late onset CMs with a special emphasis on those forms that may first manifest in adulthood.<\/jats:p>","DOI":"10.3390\/ijms21103694","type":"journal-article","created":{"date-parts":[[2020,5,25]],"date-time":"2020-05-25T06:43:40Z","timestamp":1590389020000},"page":"3694","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Update on Congenital Myopathies in Adulthood"],"prefix":"10.3390","volume":"21","author":[{"given":"George Konstantinos","family":"Papadimas","sequence":"first","affiliation":[{"name":"1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 157 80 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8222-091X","authenticated-orcid":false,"given":"Sophia","family":"Xirou","sequence":"additional","affiliation":[{"name":"1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 157 80 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelia","family":"Kararizou","sequence":"additional","affiliation":[{"name":"1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 157 80 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantinos","family":"Papadopoulos","sequence":"additional","affiliation":[{"name":"1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 157 80 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,5,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1016\/B978-0-444-59565-2.00004-6","article-title":"Congenital myopathies","volume":"113","author":"Romero","year":"2013","journal-title":"Handb. 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