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

Increased severity over generations of Charcot-Marie-Tooth disease type 1A.

Journal of neurology - 1 Jun 2008

Steiner I, Gotkine M, Steiner-Birmanns B, Biran I, Silverstein S, Abeliovich D, Argov Z, Wirguin I

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth type 1A (CMT1A) is an autosomal dominant polyneuropathy due to a 1.5 Mb tandem duplication in chromosome 17p11.2, containing the PMP22 gene. This mutation is not modified during inheritance. OBJECTIVES: We set forth to test the hypothesis that in a subgroup of CMT1A patients there is clinical anticipation, namely an increase in disease severity over generations. METHODS:...

Read the complete abstract on PubMed

Topics

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

Share to Anticipation, Genetic
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 17

Share to Disability Evaluation

Share to Ethnicity

Share to Family

Share to Myelin Proteins

Share to Peripheral Nerves

Source

Identifiers

PMID: 18438698
DOI: 10.1007/s00415-008-0693-1

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Increased severity over generations of Charcot-Marie-Tooth disease type 1A.PMID 18438698Read ↗

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.Semantic proximity Read ↗

Natural history of Charcot-Marie-Tooth disease during childhood.Semantic proximity Read ↗

Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhoodSemantic proximity Read ↗

The Charcot-Marie-Tooth syndrome: clinical aspects from a population study in South Wales, UK.Semantic proximity Read ↗

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

Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.Semantic proximity Read ↗

Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study.Semantic proximity Read ↗

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.Semantic proximity Read ↗

[The application of scales and characteristics of disability in the common genotypes of Charcot-Marie-Tooth disease].Semantic proximity Read ↗

Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M.Semantic proximity Read ↗

Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.Semantic proximity Read ↗

Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.Semantic proximity Read ↗

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