Large duplication in MTM1 associated with myotubular myopathy

Neuromuscul Disord. 2013 Mar;23(3):214-8. doi: 10.1016/j.nmd.2012.11.010. Epub 2012 Dec 28.


Myotubular myopathy is a subtype of centronuclear myopathy with X-linked inheritance and distinctive clinical and pathologic features. Most boys with myotubular myopathy have MTM1 mutations. In remaining individuals, it is not clear if disease is due to an undetected alteration in MTM1 or mutation of another gene. We describe a boy with myotubular myopathy but without mutation in MTM1 by conventional sequencing. Array-CGH analysis of MTM1 uncovered a large MTM1 duplication. This finding suggests that at least some unresolved cases of myotubular myopathy are due to duplications in MTM1, and that array-CGH should be considered when MTM1 sequencing is unrevealing.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Fatal Outcome
  • Gene Duplication*
  • Genetic Testing
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Myopathies, Structural, Congenital / genetics*
  • Protein Tyrosine Phosphatases, Non-Receptor / genetics*


  • Protein Tyrosine Phosphatases, Non-Receptor
  • myotubularin