X-Linked Myotubular Myopathy: Report of a Case With Novel Mutation
2007; SAGE Publishing; Volume: 22; Issue: 4 Linguagem: Inglês
10.1177/0883073807301930
ISSN1708-8283
AutoresTibor Hortobágyi, Hajnalka Szabó, Krisztián S. Kovács, István Bódi, Edit Bereg, Márta Katona, Valérie Biancalana, Sándor Túri, László Sztriha,
Tópico(s)Ubiquitin and proteasome pathways
ResumoMyotubular 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.
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