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X-Linked Myotubular Myopathy: Report of a Case With Novel Mutation

Departments of Histopathology University of Szeged, Szeged, Hungary, tibor.hortobagyi{at}kingsch.nhs.uk, Department of Clinical Neuropathology, King's College, London, United Kingdom

Hajnalka Szabó, MD

Department of Pediatrics University of Szeged, Szeged, Hungary

Krisztián S. Kovács, MD

Departments of Histopathology University of Szeged, Szeged, Hungary

István Bódi, MD

Department of Clinical Neuropathology, King's College, London, United Kingdom

Edit Bereg, MD

Department of Pediatrics University of Szeged, Szeged, Hungary

Márta Katona, MD

Department of Pediatrics University of Szeged, Szeged, Hungary

Valérie Biancalana, PhD

Laboratoire de Diagnostic Génétique, Faculté de Médecine et CHRU, Strasbourg, France

Sándor Túri, MD

Department of Pediatrics University of Szeged, Szeged, Hungary

László Sztriha, MD

Department of Pediatrics University of Szeged, Szeged, Hungary

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.

Key Words: centronuclear myopathy • MTM1 • myotubularin • X-linked myotubular myopathy

Journal of Child Neurology, Vol. 22, No. 4, 447-451 (2007)
DOI: 10.1177/0883073807301930


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