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Article

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

Pediatric research - 1 Feb 1999

Lupski J R

Abstract excerpt

Remarkable advances have recently elucidated the molecular genetic basis of inherited peripheral neuropathies. These studies revealed a novel mutational mechanism of a large DNA duplication as a cause for a common autosomal dominant demyelinating neuropathy. A peripheral nerve myelin gene, PMP22, located within the duplication is responsible for the demyelinating neuropathy by virtue of a gene dosage effect. The...

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Share to Amino Acid Substitution
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Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10022584
DOI: 10.1203/00006450-199902000-00001

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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