Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy

Am J Med Genet. 2002 Jan 22;107(3):256-8. doi: 10.1002/ajmg.10135.
No abstract available

Publication types

  • Letter
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Mutation
  • Myopathies, Structural, Congenital / genetics*
  • Myopathies, Structural, Congenital / pathology
  • Pedigree
  • Protein Tyrosine Phosphatases / genetics*
  • Protein Tyrosine Phosphatases, Non-Receptor
  • X Chromosome / genetics*

Substances

  • DNA
  • MTMR1 protein, human
  • Protein Tyrosine Phosphatases
  • Protein Tyrosine Phosphatases, Non-Receptor