[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]

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