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Article

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.

Neurology - 10 Jul 2012

Landouré Guida, Sullivan Jeremy M, Johnson Janel O, Munns Clare H, Shi Yijun, Diallo Oumarou, Gibbs J Raphael, Gaudet Rachelle, Ludlow Christy L, Fischbeck Kenneth H, Traynor Bryan J, Burnett Barrington G, Sumner Charlotte J

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Topics

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Share to Charcot-Marie-Tooth Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22675077
DOI: 10.1212/WNL.0b013e31825f04b2
PMCID: PMC3390542

Genes

TRPV4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.PMID 22675077Read ↗

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted SyndromeSemantic proximity Read ↗

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.Semantic proximity Read ↗

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.Semantic proximity Read ↗

Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.Semantic proximity Read ↗

Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3.Semantic proximity Read ↗

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.Semantic proximity Read ↗

Phenotypic variability of TRPV4 related neuropathies.Semantic proximity Read ↗

Novel MORC2 variants in Charcot–Marie–Tooth disease type 2Z: genetic and functional insightsSemantic proximity Read ↗

Novel TRPV4 mutation in a large Chinese family with congenital distal spinal muscular atrophy, skeletal dysplasia and scaly skin.Semantic proximity Read ↗

Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.Semantic proximity Read ↗

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.Semantic proximity Read ↗

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.Semantic proximity Read ↗

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