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

New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male.

Journal of clinical neuromuscular disease - 1 Dec 2013

Noriega Elizabeth, Ramos Edwardo

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is an inherited peripheral neuropathy caused by mutations in more than 30 different genes. One of the genes encodes for periaxin (PRX) protein, which is required for the maintenance of peripheral nerve myelin. Individuals with PRX gene mutations have been described to present early-onset, autosomal recessive, demyelinating CMT disease or CMT4F subtype. Only 23 mutations involving...

Read the complete abstract on PubMed

Topics

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

Share to Charcot-Marie-Tooth Disease
Share to Child
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Mutation

Share to Puerto Rico

Source

Identifiers

PMID: 24263033
DOI: 10.1097/CND.0000000000000009

Genes

PRX

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

New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male.PMID 24263033Read ↗

A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Four novel cases of periaxin-related neuropathy and review of the literature.Semantic proximity Read ↗

[A pedigree of Charcot-Marie-Tooth disease type 4F (Periaxin mutation)].Semantic proximity Read ↗

Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.Semantic proximity Read ↗

Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F.Semantic proximity Read ↗

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.Semantic proximity Read ↗

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

[Analysis of PRX gene variants in a child with Charcot-Marie-Tooth disease type 4F].Semantic proximity Read ↗

Charcot–Marie–Tooth type 4F disease caused by S399fsx410 mutation in the PRX geneSemantic proximity Read ↗

Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.Semantic proximity Read ↗

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