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J Child Neurol. 2007 Apr;22(4):447-51.

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

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1
Department of Histopathology University of Szeged, Szeged, Hungary. tibor.hortobagyi@kingsch.nhs.uk

Abstract

Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe X-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, revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene. This case underlines the importance of interdisciplinary analysis of congenital muscle diseases, including histomorphological and genetic investigations.

PMID:
17621527
DOI:
10.1177/0883073807301930
[Indexed for MEDLINE]
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