Myotubularis myopathi. Esetismertetés és irodalmi áttekintés

Translated title of the contribution: Myotubular myopathy. Case report and review of the literature

S. Krisztián Kovács, József Korcsik, Hajnalka Szabó, István Bódi, Márta Katona, Edit Bereg, Emoke Endreffy, Sándor Túri, Tibor Hortobágyi, László Sztriha

Research output: Contribution to journalArticle

Abstract

The first Hungarian report of a case of myotubular myopathy is presented here, which is a recessive congenital disorder linked to X chromosome. The patient presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis and respiratory insufficiency. The biopsy showed the appearance of myotubular myopathy. The diagnosis was further confirmed by genetic analysis revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene.

Original languageHungarian
Pages (from-to)1757-1762
Number of pages6
JournalOrvosi hetilap
Volume148
Issue number37
DOIs
Publication statusPublished - Sep 16 2007

    Fingerprint

ASJC Scopus subject areas

  • Medicine(all)

Cite this