[Myotubular myopathy. Case report and review of the literature]

S Krisztián Kovács; József Korcsik; Hajnalka Szabó; István Bódi; Márta Katona; Edit Bereg; Emoke Endreffy; Sándor Túri; Tibor Hortobágyi; László Sztriha

doi:10.1556/OH.2007.28054

[Myotubular myopathy. Case report and review of the literature]

Orv Hetil. 2007 Sep 16;148(37):1757-62. doi: 10.1556/OH.2007.28054.

[Article in Hungarian]

Authors

S Krisztián Kovács¹, József Korcsik, Hajnalka Szabó, István Bódi, Márta Katona, Edit Bereg, Emoke Endreffy, Sándor Túri, Tibor Hortobágyi, László Sztriha

Affiliation

¹ Szegedi Tudományegyetem, Altalános Orvostudományi Kar, Pathológiai Intézet. kovacsskrisztian@hotmail.com

PMID: 17827085
DOI: 10.1556/OH.2007.28054

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.

Publication types

Case Reports
English Abstract
Review

MeSH terms

Biopsy
DNA Mutational Analysis
Frameshift Mutation*
Genetic Diseases, X-Linked / pathology*
Humans
Infant
Infant, Newborn
Microscopy, Electron
Muscle Hypotonia / etiology
Myopathies, Structural, Congenital / genetics*
Myopathies, Structural, Congenital / pathology*
Prognosis
Protein Tyrosine Phosphatases / genetics*
Protein Tyrosine Phosphatases, Non-Receptor
Thymine

Substances

Protein Tyrosine Phosphatases
Protein Tyrosine Phosphatases, Non-Receptor
myotubularin
Thymine