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

A Bolino; M Muglia; F L Conforti; E LeGuern; M A Salih; D M Georgiou; K Christodoulou; I Hausmanowa-Petrusewicz; P Mandich; A Schenone; A Gambardella; F Bono; A Quattrone; M Devoto; A P Monaco

doi:10.1038/75542

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.

Authors

A Bolino¹, M Muglia, F L Conforti, E LeGuern, M A Salih, D M Georgiou, K Christodoulou, I Hausmanowa-Petrusewicz, P Mandich, A Schenone, A Gambardella, F Bono, A Quattrone, M Devoto, A P Monaco

Affiliation

¹ Wellcome Trust Centre for Human Genetics, Oxford, UK.

PMID: 10802647
DOI: 10.1038/75542

Abstract

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

Substances

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

Grants and funding

293/B/TI_/Telethon/Italy