Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Nature genetics - 1 May 2000

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

Abstract excerpt

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).

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 11

Share to DNA, Complementary

Share to DNA Mutational Analysis

Share to Protein Tyrosine Phosphatases

Share to Protein Tyrosine Phosphatases, Non-Receptor

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 10802647
DOI: 10.1038/75542

Genes

DSP
MTMR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.PMID 10802647Read ↗

Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.Semantic proximity Read ↗

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.Semantic proximity Read ↗

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.Semantic proximity Read ↗

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.Semantic proximity Read ↗

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.Semantic proximity Read ↗

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.Semantic proximity Read ↗

A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).Semantic proximity Read ↗

Novel MORC2 variants in Charcot–Marie–Tooth disease type 2Z: genetic and functional insightsSemantic proximity Read ↗

The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.Semantic proximity Read ↗

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.Semantic proximity Read ↗

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.Semantic proximity Read ↗

Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.