X-linked myotubular myopathy: Report of a case with novel mutation

T Hortobagyi, H Szabo, K S Kovacs, I Bodi, E Bereg, M Katona, V Biancalana, S Turi, L Sztriha

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    2 Citations (Scopus)


    Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe V linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and further specified by genetic analysis,
    Original languageEnglish
    Pages (from-to)447 - 451
    Number of pages5
    JournalJournal of Child Neurology
    Issue number4
    Publication statusPublished - Apr 2007


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