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

Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?

27 May 2003

Abstract excerpt

Charcot-Marie-Tooth type 1A (CMT1A) is associated with a peripheral myelin protein-22 ( PMP22 ) gene duplication on chromosome 17p11.2.1 CMT1A patients have three PMP22 copies and a gene dosage effect, leading to increased PMP22 protein expression, is the hypothesized pathogenic mechanism. Homozygosity for the duplication has been reported in patients from three families, with both parents carrying the...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
Share to Hereditary Neurological Disorders
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 12771282
DOI: 10.1212/01.wnl.0000059262.34846.8a

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?PMID 12771282Read ↗

Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication.Semantic proximity Read ↗

Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease.Semantic proximity Read ↗

Clinical predominance of proximal upper limb weakness in CMT1A syndrome.Semantic proximity Read ↗

Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study.Semantic proximity Read ↗

A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.Semantic proximity Read ↗

Atypical phenotype of charcot-marie-tooth disease type 1A.Semantic proximity Read ↗

Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.Semantic proximity Read ↗

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

Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes.Semantic proximity Read ↗

Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.Semantic proximity Read ↗

[The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth disease type 1].Semantic proximity Read ↗

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