Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations

Neurology. 2005 May 10;64(9):1638-40. doi: 10.1212/01.WNL.0000160393.99621.D0.

Abstract

The authors report two families with a myopathy phenotype affecting only women, marked by asymmetric weakness, skeletal asymmetry, and an elevated hemidiaphragm. One family had a mutation in a stop codon in exon 9 of the myotubularin gene, and the other had a splice site mutation in exon 13. Both families had manifesting and nonmanifesting carriers. Skewed X-inactivation appeared to explain the clinical manifestations in only one of the two families.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone and Bones / abnormalities*
  • Child, Preschool
  • DNA Mutational Analysis
  • Diaphragm / pathology
  • Diaphragm / physiopathology*
  • Female
  • Functional Laterality / genetics
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Inheritance Patterns / genetics
  • Male
  • Middle Aged
  • Muscle Weakness / genetics
  • Muscle Weakness / pathology
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Muscular Diseases / complications*
  • Muscular Diseases / genetics*
  • Muscular Diseases / physiopathology
  • Mutation / genetics*
  • Pedigree
  • Phenotype
  • Protein Tyrosine Phosphatases / genetics*
  • Protein Tyrosine Phosphatases, Non-Receptor
  • X Chromosome Inactivation / genetics

Substances

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