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Article

Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes.

Archives of neurology - 1 Jan 2006

Hodapp Julie A, Carter Gregory T, Lipe Hillary P, Michelson Sara J, Kraft George H, Bird Thomas D

Abstract excerpt

BACKGROUND: Mutations in the peripheral myelin protein 22 (PMP-22) gene are the most common cause of Charcot-Marie-Tooth neuropathy and may rarely occur in combination with other neurogenetic diseases. OBJECTIVE: To characterize 3 families having a mutation in PMP-22 in addition to another neurogenetic disease mutation. DESIGN: Clinical, electrophysiologic, and genetic evaluations were made of 3 families with...

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Source

Identifiers

PMID: 16401743
DOI: 10.1001/archneur.63.1.112

Genes

ABCD1
DMPK
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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