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

PMP22 Thr118Met is not a clinically relevant CMT1 marker.

Journal of neurology - 1 Sept 2000

Young P, Stögbauer F, Eller B, de Jonghe P, Löfgren A, Timmerman V, Rautenstrauss B, Oexle K, Grehl H, Kuhlenbäumer G, Van Broeckhoven C, Ringelstein E B, Funke H

Abstract excerpt

It is controversial if peripheral myelin protein 22 gene (PMP22) Thr118Met represents a functionally irrelevant polymorphism or, since hemizygosity for this variant has been found in two patients with Charcot-Marie-Tooth disease type 1 (CMT1 patients), it can act as a recessive CMT1 mutation. To shed further light on this variant and its diagnostic value we searched for carriers in 1018 individuals from the...

Read the complete abstract on PubMed

Topics

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

Share to Biomarkers
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Myelin Proteins

Share to Point Mutation

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Share to Risk Factors

Source

Identifiers

PMID: 11081809
DOI: 10.1007/s004150070113

Genes

PMP22

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 · 10 closest

PMP22 Thr118Met is not a clinically relevant CMT1 marker.PMID 11081809Read ↗

Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication.Semantic proximity Read ↗

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.Semantic proximity Read ↗

Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.Semantic proximity Read ↗

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

Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype.Semantic proximity Read ↗

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.Semantic proximity Read ↗

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.Semantic proximity Read ↗

The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease.Semantic proximity Read ↗

PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarkerSemantic proximity Read ↗

Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

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