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

Axonal and demyelinating forms of the MPZ Thr124Met mutation.

Acta neurologica Scandinavica - 1 Sept 2003

Kurihara S, Adachi Y, Wada K, Adachi A, Ohama E, Nakashima K

Abstract excerpt

OBJECTIVE: We report on a Japanese family with Charcot Marie Tooth disease (CMT) with the Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene. MATERIAL AND METHODS: Based on the clinical study, we investigated MPZ gene by direct sequence analysis and polymerase chain reaction restriction fragment length polymorphism analysis. RESULTS: Genotyping of four symptomatic family members showed that one...

Read the complete abstract on PubMed

Topics

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

Share to Myelin P0 Protein
Share to Threonine
Share to Autopsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Charcot-Marie-Tooth Disease

Share to Consanguinity

Share to Demyelinating Diseases

Share to Methionine

Source

Identifiers

PMID: 12911457
DOI: 10.1034/j.1600-0404.2003.00110.x

Genes

MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Axonal and demyelinating forms of the MPZ Thr124Met mutation.PMID 12911457Read ↗

Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation.Semantic proximity Read ↗

Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.Semantic proximity Read ↗

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.Semantic proximity Read ↗

MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.Semantic proximity Read ↗

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).Semantic proximity Read ↗

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.Semantic proximity Read ↗

Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.Semantic proximity Read ↗

Complete Loss of Myelin protein zero (MPZ) in a patient with a late onset Charcot-Marie-Tooth (CMT).Semantic proximity Read ↗

A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.Semantic proximity Read ↗

Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.Semantic proximity Read ↗

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