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

Report of a novel mutation in the PMP22 gene causing an axonal neuropathy.

Muscle & nerve - 1 Apr 2011

Gess Burkhard, Jeibmann Astrid, Schirmacher Anja, Kleffner Ilka, Schilling Matthias, Young Peter

Abstract excerpt

INTRODUCTION: Point mutations in the peripheral myelin protein 22 (PMP22) gene rarely cause the hereditary neuropathies Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), both of which show a demyelinating phenotype. METHODS: In this study we characterized a family with an axonal neuropathy. RESULTS: Three family members carried a heterozygous point...

Read the complete abstract on PubMed

Topics

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

Share to Aged, 80 and over
Share to Axons
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to PMP22 gene

Share to Mutation

Share to Myelin Proteins

Share to Pedigree

Share to Polyneuropathies

Source

Identifiers

PMID: 21337347
DOI: 10.1002/mus.21973

Genes

PMP22

Variants

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Report of a novel mutation in the PMP22 gene causing an axonal neuropathy.PMID 21337347Read ↗

Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.Semantic proximity Read ↗

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.Semantic proximity Read ↗

Characterization of a Portuguese family with Charcot-Marie-Tooth disease type 1E due to a novel point mutation in the PMP22 gene.Semantic proximity Read ↗

A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

Variable phenotypes are associated with PMP22 missense mutations.Semantic proximity Read ↗

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.Semantic proximity Read ↗

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Semantic proximity Read ↗

A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.Semantic proximity Read ↗

A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

The PMP22 gene and its related diseases.Semantic proximity Read ↗

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.Semantic proximity Read ↗

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