A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy

Am J Hum Genet. 1997 Jun;60(6):1542-4. doi: 10.1016/S0002-9297(07)64249-9.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • Exons
  • Female
  • Humans
  • Introns
  • Male
  • Muscular Diseases / genetics*
  • Pedigree
  • Point Mutation*
  • Protein Tyrosine Phosphatases / genetics*
  • Protein Tyrosine Phosphatases, Non-Receptor
  • X Chromosome*

Substances

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