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Article

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

European journal of human genetics : EJHG - 1 Sept 2009

Miltenberger-Miltenyi Gabriel, Schwarzbraun Thomas, Löscher Wolfgang N, Wanschitz Julia, Windpassinger Christian, Duba Hans-Christoph, Seidl Rainer, Albrecht Gerhard, Weirich-Schwaiger Helga, Zoller Heinz, Utermann Gerd, Auer-Grumbach Michaela, Janecke Andreas R

Abstract excerpt

Duplication within the chromosome 17p11.2 (CMT1Adup), peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and gap junction beta1-protein (GJB1) gene mutations are frequent causes of the Charcot-Marie-Tooth disease (CMT). A large number of mutations in these genes are listed in databases. Sequence variants identified in patients are frequently reported as mutations without further evaluation. We...

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Source

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Identifiers

PMID: 19259128
DOI: 10.1038/ejhg.2009.29
PMCID: PMC2986587

Genes

PMP22
GJB1
MPZ

Variants

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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