Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations

Neurology. 2001 Sep 11;57(5):900-2. doi: 10.1212/wnl.57.5.900.


Although X-linked myotubular myopathy (XLMTM) is a recessive disorder, heterozygous female carriers of MTM1 mutations may present with limb girdle and facial weakness. It is proposed that manifesting heterozygote females with XLMTM have a skewed pattern of X-chromosome inactivation. However, skewed X-chromosome inactivation was not detected in either the lymphocyte or muscle DNA of a woman who presented with limb girdle/facial weakness and was found to be heterozygous for the R224X mutation.

MeSH terms

  • Adult
  • Dosage Compensation, Genetic
  • Extremities / pathology
  • Face / pathology
  • Female
  • Genetic Carrier Screening*
  • Genetic Linkage / genetics*
  • Humans
  • Infant
  • Male
  • Muscle Weakness / genetics*
  • Muscle Weakness / pathology
  • Muscle, Skeletal / pathology
  • Mutation / genetics
  • Myopathies, Structural, Congenital / genetics*
  • Myopathies, Structural, Congenital / pathology
  • Pedigree
  • Protein Tyrosine Phosphatases / genetics*
  • Protein Tyrosine Phosphatases, Non-Receptor
  • X Chromosome / genetics*


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