Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

Nat Genet. 2000 May;25(1):17-9. doi: 10.1038/75542.


A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive demyelinating neuropathy with myelin outfoldings, has been mapped on chromosome 11q22. Using a positional-cloning strategy, we identified in unrelated CMT4B patients mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing
  • Charcot-Marie-Tooth Disease / enzymology
  • Charcot-Marie-Tooth Disease / etiology*
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosomes, Human, Pair 11 / genetics
  • DNA Mutational Analysis
  • DNA, Complementary / isolation & purification
  • Humans
  • Mutation / genetics*
  • Protein Tyrosine Phosphatases / genetics*
  • Protein Tyrosine Phosphatases, Non-Receptor
  • Reverse Transcriptase Polymerase Chain Reaction


  • DNA, Complementary
  • MTMR2 protein, human
  • Protein Tyrosine Phosphatases
  • Protein Tyrosine Phosphatases, Non-Receptor
  • myotubularin