Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation

Neuromuscul Disord. 2018 Nov;28(11):952-955. doi: 10.1016/j.nmd.2018.08.003. Epub 2018 Aug 13.


X-linked myotubular myopathy (XLMTM) is a rare neuromuscular condition caused by mutations in the MTM1 gene. Female carriers are believed to be usually asymptomatic; nevertheless, recent reports have displayed a wide a spectrum of clinical involvement in females suggesting that MTM1 mutations might be underestimated in this population. Here we report a 55-year-old woman manifesting with an abrupt respiratory decline, whose respiratory function tests revealed a severe restrictive ventilatory defect. The neurological examination identified mild proximal leg weakness and her cardiac evaluation showed a non-compaction cardiomyopathy with normal left ventricle function. Muscle biopsy was consistent with centronuclear myopathy. Next-generation sequencing of 49 genes related to congenital myopathies allowed the identification of a 4 bp deletion in the MTM1 gene, leading to a truncating mutation previously described in males but for the first time reported in a female patient.

Keywords: Cardiomyopathy; Genetics; MTM1; Neuromuscular; X-linked myotubular myopathy.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathies / genetics*
  • Cardiomyopathies / pathology
  • Female
  • Heterozygote
  • Humans
  • Middle Aged
  • Muscle Weakness / genetics
  • Muscle Weakness / pathology
  • Muscle, Skeletal / pathology
  • Mutation*
  • Myopathies, Structural, Congenital / genetics*
  • Myopathies, Structural, Congenital / pathology
  • Protein Tyrosine Phosphatases, Non-Receptor / genetics*
  • Respiratory Insufficiency / genetics*
  • Respiratory Insufficiency / pathology


  • Protein Tyrosine Phosphatases, Non-Receptor
  • myotubularin