{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T03:59:07Z","timestamp":1773115147267,"version":"3.50.1"},"reference-count":0,"publisher":"Ideggyogyaszati Szemle Journal","issue":"9-10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"published-print":{"date-parts":[[2025]]},"abstract":"<jats:p>A dezmin egy intermedier filamentum, \u00e9s g\u00e9nj\u00e9nek (DES) mut\u00e1ci\u00f3ja leggyakrabban myofibrillaris myopathi\u00e1t okoz. Egy 26 \u00e9ves f\u00e9rfi beteg progressz\u00edv proxim\u00e1lis izomgyenges\u00e9ggel jelentkezett, \u00e9s diagnosztikai kivizsg\u00e1l\u00e1sra ker\u00fclt. A vizsg\u00e1lat sor\u00e1n a proxim\u00e1lis v\u00e9gtaggyenges\u00e9g mellett a jobb oldali l\u00e1\u00ad t\u00e1s\u00e9less\u00e9g cs\u00f6kken\u00e9se \u00e9s enyhe felsz\u00ednes \u00e9r\u00ad z\u00e9s\u00ad zavar volt megfigyelhet\u0151. A sz\u00e9rumban magas kreatinkin\u00e1zszint, valamint az elektromiogr\u00e1fi\u00e1n myopathi\u00e1s elt\u00e9r\u00e9sek voltak \u00e9szlelhet\u0151k. Az izombiopszia myopathi\u00e1s elv\u00e1ltoz\u00e1sokat mutatott, dystrophinra pozit\u00edv vaku\u00f3lumokkal \u00e9s az endomysium enyhe felszaporod\u00e1s\u00e1val. Az agyi MR-vizsg\u00e1lat T2-hiperintenz\u00edv laesi\u00f3kat \u00e1br\u00e1zolt, r\u00e9szben kontraszthalmoz\u00e1ssal, amelyek primer demyelinisati\u00f3s betegs\u00e9gnek feleltek meg. Az \u00faj gener\u00e1ci\u00f3s DNS-szekven\u00e1l\u00e1s a DES-g\u00e9n homozig\u00f3ta c.1289-2A&gt;G mut\u00e1ci\u00f3j\u00e1t mutatta ki, amelyet kor\u00e1bban mind\u00f6ssze egy csal\u00e1dban \u00edrtak le. B\u00e1r k\u00f6zponti idegrendszeri \u00e9rintetts\u00e9g t\u00f6bbf\u00e9le izombetegs\u00e9gben is el\u0151fordulhat, a sclerosis multiplex (SM) \u00e9s a myopathia egy\u00fcttes megjelen\u00e9se rendk\u00edv\u00fcl ritka. Tudom\u00e1sunk szerint ez az els\u0151 eset, amelyben dezminhez  kapcsolt myopathia \u00e9s SM egy\u00fctt fordul el\u0151.<\/jats:p>","DOI":"10.18071\/isz.78.0357","type":"journal-article","created":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T08:58:06Z","timestamp":1759309086000},"page":"357-360","source":"Crossref","is-referenced-by-count":1,"title":["Feln\u0151ttkori kezdet\u0171 dezmin-myopathia sclerosis multiplexes betegn\u00e9l"],"prefix":"10.18071","volume":"78","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4270-3217","authenticated-orcid":false,"given":"Doruk","family":"Arslan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2355-6979","authenticated-orcid":false,"given":"Can Ebru","family":"Bekircan-Kurt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9449-4483","authenticated-orcid":false,"given":"Meryem Asli","family":"Tuncer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0127-6861","authenticated-orcid":false,"given":"Cagri Mesut","family":"Temucin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9348-6457","authenticated-orcid":false,"given":"Sevim","family":"Erdem-Ozdamar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8418-2961","authenticated-orcid":false,"given":"Ersin","family":"Tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7411","published-online":{"date-parts":[[2025]]},"container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"original-title":[],"link":[{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/adult-onset-desmin-myopathy-in-a-patient-with-multiple-sclerosis\/pdf-open","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T08:58:07Z","timestamp":1759309087000},"score":1,"resource":{"primary":{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/adult-onset-desmin-myopathy-in-a-patient-with-multiple-sclerosis"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":0,"journal-issue":{"issue":"9-10","published-online":{"date-parts":[[2025]]},"published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.18071\/isz.78.0357","relation":{},"ISSN":["0019-1442","2498-6208"],"issn-type":[{"value":"0019-1442","type":"print"},{"value":"2498-6208","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]}}}