{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T13:45:29Z","timestamp":1717595129359},"reference-count":17,"publisher":"Akademiai Kiado Zrt.","issue":"34","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,8,1]]},"abstract":"<jats:p>A mitokondri\u00e1lis encephalomyopathi\u00e1t, lakt\u00e1tacid\u00f3zist, stroke-szer\u0171 epiz\u00f3dokat (MELAS-szindr\u00f3m\u00e1t) a leggyakrabban a mitokondri\u00e1lis genom A3243G-mut\u00e1ci\u00f3ja okozza. A mitokondri\u00e1lis DNS (mtDNS) A3243G-szubsztit\u00faci\u00f3ja sz\u00e1mos egy\u00e9b klinikai t\u00fcnet, t\u00fcnetcsoport h\u00e1tter\u00e9ben is el\u0151fordulhat. Jelen k\u00f6zlem\u00e9ny\u00fcnkben egy 33 \u00e9ves n\u0151 eset\u00e9t ismertetj\u00fck, akin\u00e9l a serd\u00fcl\u0151kori ophthalmoplegia externa, 19 \u00e9ves korban, sz\u00fcl\u00e9st k\u00f6vet\u0151en jelentkez\u0151 generaliz\u00e1lt izomgyenges\u00e9g, terhel\u00e9si intolerancia, progressz\u00edv hypacusis \u00e9s diabetes mellitus h\u00e1tter\u00e9ben a sz\u00f6vettani vizsg\u00e1lat mitokondri\u00e1lis betegs\u00e9get igazolt. A genetikai anal\u00edzis az mtDNS tRNS<jats:sup>Leu(UUR)<\/jats:sup>g\u00e9nj\u00e9ben heteroplazmikus form\u00e1ban A3243G-cser\u00e9t tal\u00e1lt. Eset\u00fcnkben a klasszikus MELAS-fenot\u00edpus nem jelentkezett, az irodalmi adatok alapj\u00e1n azonban az A3243G-mut\u00e1ci\u00f3hoz izol\u00e1ltan t\u00e1rsul\u00f3 matern\u00e1lis \u00f6r\u00f6kl\u0151d\u00e9s\u0171 diabetes mellitus, progressz\u00edv nagyothall\u00e1s, kr\u00f3nikus progressz\u00edv ophthalmoplegia externa (CPEO), terhel\u00e9si intolerancia \u00e9s myopathia egy\u00fcttesen fordult el\u0151. A csal\u00e1don bel\u00fcli fenot\u00edpus egys\u00e9ges, a proband szint\u00e9n A3243G-mut\u00e1ci\u00f3t hordoz\u00f3 le\u00e1ny\u00e1nak is ptosisa, terhel\u00e9si intoleranci\u00e1ja \u00e9s myopathi\u00e1ja van. Az esetle\u00edr\u00e1s kapcs\u00e1n r\u00f6vid \u00e1ttekint\u00e9st ny\u00fajtunk az A3243G-mut\u00e1ci\u00f3khoz t\u00e1rsul\u00f3 v\u00e1ltozatos klinikai fenot\u00edpusokr\u00f3l, valamint a CPEO-szindr\u00f3ma h\u00e1tter\u00e9ben \u00e1ll\u00f3 mtDNS-alter\u00e1ci\u00f3kr\u00f3l.<\/jats:p>","DOI":"10.1556\/oh.2008.28398","type":"journal-article","created":{"date-parts":[[2008,8,16]],"date-time":"2008-08-16T20:37:10Z","timestamp":1218919030000},"page":"1593-1598","source":"Crossref","is-referenced-by-count":5,"title":["Maternally inherited diabetes mellitus, deafness, chronic progressive external ophthalmoplegia and myopathy as the result of A3243G mutation of mtDNA"],"prefix":"10.1556","volume":"149","author":[{"given":"Anik\u00f3","family":"G\u00e1l","sequence":"first","affiliation":[{"name":"1 Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Neurol\u00f3giai Klinika, Molekul\u00e1ris Neurol\u00f3giai K\u00f6zpont Budapest Balassa J. u. 6. 1083"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antal","family":"Szab\u00f3","sequence":"additional","affiliation":[{"name":"2 Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Neurol\u00f3giai Klinika Debrecen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kl\u00e1ra","family":"Pentel\u00e9nyi","sequence":"additional","affiliation":[{"name":"1 Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Neurol\u00f3giai Klinika, Molekul\u00e1ris Neurol\u00f3giai K\u00f6zpont Budapest Balassa J. u. 6. 1083"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsuzsanna","family":"P\u00e1l","sequence":"additional","affiliation":[{"name":"2 Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Neurol\u00f3giai Klinika Debrecen"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"atypb1","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1080\/07853890510007368","volume":"37","year":"2005","journal-title":"Ann. 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