X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths

Clin Genet. 2005 May;67(5):441-2. doi: 10.1111/j.1399-0004.2005.00433.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Child, Preschool
  • Chromosomes, Human, X*
  • DNA Mutational Analysis
  • Fatal Outcome
  • Genotype
  • Humans
  • Infant, Newborn
  • Male
  • Mutation, Missense
  • Myopathies, Structural, Congenital / genetics*
  • Pedigree
  • Phenotype
  • Protein Tyrosine Phosphatases / genetics*
  • Protein Tyrosine Phosphatases, Non-Receptor

Substances

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