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Article

A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.

Neuromuscular disorders : NMD - 1 Dec 2006

Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo M L

Abstract excerpt

X-linked Charcot-Marie-Tooth disease is the second most common variant of CMT. CMTX1 is caused by mutations in the GJB1 gene encoding for connexin 32. We describe an Italian family with an intermediate CMTX phenotype with late onset. Mutation screening of the GJB1 gene revealed a 9-bp duplication leading to the insertion of three aminoacids (Thr-Val-Phe) between the end of the second extracellular domain and the...

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Source

Identifiers

PMID: 17052905
DOI: 10.1016/j.nmd.2006.09.002

Genes

GJB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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