X-Linked Myotubular Myopathy: Report of a Case With Novel Mutation-Reference-Cited by-同舟云学术

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

Published:2007-04 Issue:4 Volume:22 Page:447-451
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Hortobágyi Tibor¹,Szabó Hajnalka²,Kovács Krisztián S.³,Bódi István⁴,Bereg Edit²,Katona Márta²,Biancalana Valérie⁵,Túri Sándor²,Sztriha László²

Affiliation:

1. Departments of Histopathology University of Szeged, Szeged, Hungary, , Department of Clinical Neuropathology, King's College, London, United Kingdom

2. Department of Pediatrics University of Szeged, Szeged, Hungary

3. Departments of Histopathology University of Szeged, Szeged, Hungary

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

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

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.

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/0883073807301930

Reference28 articles.

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5. CONGENITAL CENTRONUCLEAR (MYOTUBULAR) MYOPATHY

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