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Article

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

Medicina clinica - 6 May 1995

Bort S, Sevilla T, Vílchez J J, Prieto F, Palau F

Abstract excerpt

BACKGROUND: The Charcot-Marie-Tooth (CMT) disease or hereditary motor-sensitive neuropathy (HMSN) is the most frequent hereditary neuropathy. The demyelinated or type 1 form (CMT1) is the most frequently presented, commonly being of a dominant autosomic inheritance. CMT1 is heterogeneous genetically and the subjacent mutation found in most of the cases is a duplication of 1,500 kb in the CMT1A locus of chromosome...

Topics

Alleles
Charcot-Marie-Tooth Disease
Female
Genes, Dominant
Genes, Recessive
Genetic Carrier Screening
Genetic Markers
Humans
Male
Molecular Probes
Multigene Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Polymorphism, Restriction Fragment Length

Prevalence

Source

Identifiers

PMID: 7623491

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7623491-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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