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  • 1 Szegedi Tudományegyetem, Általános Orvostudományi Kar Pathológiai Intézet Szeged Állomás u. 2. 6724
  • 2 Szegedi Tudományegyetem, Általános Orvostudományi Kar Gyermekgyógyászati Klinika és Gyermek Egészségügyi Központ Szeged
  • 3 King’s College Department of Clinical Neuropathology London Egyesült Királyság
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X-kromoszómához kötötten, recesszíven öröklődő myotubularis myopathia első magyar nyelven ismertetett esetét írják le a szerzők. Már megszületéskor súlyos izomhypotoniát, szegényes spontán mozgásokat, arthrogryposist és légzési elégtelenséget észleltek a betegben. Az izombiopszia a congenitalis myopathiák csoportjába tartozó myotubularis myopathia képét mutatta. A diagnózist megerősítette a molekuláris genetikai vizsgálat, amely egy – eddig nem ismert – frameshiftet eredményező mutációt (1314-1315insT) talált a myotubularint kódoló MTM1 -génben.

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