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Updated: Jul 11, 2026

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
Published on: July 15, 2014
[Myotubular myopathy. Case report and review of the literature]
S Krisztián Kovács1, József Korcsik, Hajnalka Szabó
1Szegedi Tudományegyetem, Altalános Orvostudományi Kar, Pathológiai Intézet. kovacsskrisztian@hotmail.com
Abstract:
The first Hungarian report of a case of myotubular myopathy is presented here, which is a recessive congenital disorder linked to X chromosome. The patient presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis and respiratory insufficiency. The biopsy showed the appearance of myotubular myopathy. The diagnosis was further confirmed by genetic analysis revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene.
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