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Article

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.

Journal of neurology - 1 Aug 2011

Berciano José, Baets Jonathan, Gallardo Elena, Zimoń Magdalena, García Antonio, López-Laso Eduardo, Combarros Onofre, Infante Jon, Timmerman Vincent, Jordanova Albena, De Jonghe Peter

Abstract excerpt

Incomplete penetrance has rarely been reported in Charcot-Marie-Tooth disease. Our aim is to describe reduced penetrance in a hereditary motor neuropathy pedigree due to mutation in the transient receptor potential vallinoid 4 (TRPV4) gene. The pedigree comprised two affected members, the proband aged 44 years and her affected daughter aged 7 years, and seven additional related subjects, three of whom were...

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Identifiers

PMID: 21336783
DOI: 10.1007/s00415-011-5947-7

Genes

TRPV4

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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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