A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy

Hum Hered. 1999 Jan;49(1):59-60. doi: 10.1159/000022843.

Abstract

The mutation is a C to T transition at nucleotide 811 of the MTM1 gene (OMIM 310400) leading to premature termination of translation at codon 271 of the myotubularin protein (R271X).

MeSH terms

  • Adult
  • Base Sequence
  • Exons
  • Haplotypes
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single-Stranded Conformational
  • Protein Tyrosine Phosphatases / genetics*
  • Protein Tyrosine Phosphatases, Non-Receptor

Substances

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