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

Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.

Acta biochimica Polonica - 1 Jan 2004

Nowakowski Adam, Kochański Andrzej

Abstract excerpt

The myelin protein zero gene (MPZ) coding for the most abundant protein of the peripheral myelin was shown to be mutated in Charcot-Marie-Tooth type 1B disease (CMT1B). Later on MPZ mutations have been shown in axonal type of CMT (CMT2). Recently three novel MPZ gene mutations were reported in congenital hypomyelinating neuropathy (CHN). In contrast to the previously reported studies, focused on CMT1B disease, we...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Charcot-Marie-Tooth Disease
Share to DNA Primers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Models, Molecular

Share to Myelin P0 Protein

Share to Polymorphism, Single-Stranded Conformational

Share to Protein Conformation

Source

Identifiers

PMID: 15094849

Genes

MPZ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.PMID 15094849Read ↗

Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes.Semantic proximity Read ↗

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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

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

Two novel MPZ mutations in Chinese CMT patients.Semantic proximity Read ↗

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.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 ↗

Axonal and demyelinating forms of the MPZ Thr124Met mutation.Semantic proximity Read ↗

Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.Semantic proximity Read ↗

A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.Semantic proximity Read ↗

Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene.Semantic proximity Read ↗

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