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Article

Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.

Human molecular genetics - 1 Dec 1993

Palau F, Löfgren A, De Jonghe P, Bort S, Nelis E, Sevilla T, Martin J J, Vilchez J, Prieto F, Van Broeckhoven C

Abstract excerpt

A 1.5 Mb duplication within 17p11.2 is the major mutation causing both autosomal dominant and sporadic Charcot-Marie-Tooth disease type 1A (CMT1A). An independent origin for the mutation in each family has been postulated. The proposed genetic mechanism causing the CMT1A duplication is unequal nonsister chromatid exchange at meiosis (unequal crossing-over). We studied the parental origin of the duplication in...

Topics

Blotting, Southern
Charcot-Marie-Tooth Disease
Chromatids
Chromosome Mapping
Chromosomes, Human, Pair 17
DNA
Fathers
Female
Humans
Male
Multigene Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Polymerase Chain Reaction

Spermatogenesis

Source

Identifiers

PMID: 8111370
DOI: 10.1093/hmg/2.12.2031

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8111370-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.PMID 8111370Read ↗

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