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

Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.

Brain : a journal of neurology - 1 May 2001

Houlden H, King R H, Wood N W, Thomas P K, Reilly M M

Abstract excerpt

Focally folded myelin has been recognized as a distinctive feature in some individuals with severe inherited demyelinating neuropathy, with an onset in childhood. Such cases have been shown to be genetically heterogeneous. Alterations in the myotubularin-related protein 2 (MTMR2) gene on chromosome 11q22 have recently been shown to give rise to this phenotype. Mutations have been identified in the 3' region of...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 11
Share to England

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hereditary Sensory and Motor Neuropathy

Share to Myelin Sheath

Share to Nerve Fibers, Myelinated

Share to Penetrance

Share to Protein Tyrosine Phosphatases, Non-Receptor

Share to Sural Nerve

Source

Identifiers

PMID: 11335693
DOI: 10.1093/brain/124.5.907

Genes

MTMR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.PMID 11335693Read ↗

Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).Semantic proximity Read ↗

Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity.Semantic proximity Read ↗

Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23.Semantic proximity Read ↗

A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.Semantic proximity Read ↗

A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies.Semantic proximity Read ↗

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.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 ↗

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.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 ↗

Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes.Semantic proximity Read ↗

Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.Semantic proximity Read ↗

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.Semantic proximity Read ↗

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