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Article

Case of Charcot-Marie-Tooth Type 2C Due to a TRPV4 Gene Mutation With Isolated Sudomotor Autonomic Dysfunction.

Journal of clinical neuromuscular disease - 1 Mar 2018

Baker Jacquie, Kimpinski Kurt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29465618
DOI: 10.1097/CND.0000000000000187

Genes

TRPV4

Provenance

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Case of Charcot-Marie-Tooth Type 2C Due to a TRPV4 Gene Mutation With Isolated Sudomotor Autonomic Dysfunction.PMID 29465618Read ↗

The puzzle of TRPV4 channelopathies.Semantic proximity Read ↗

Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder.Semantic proximity Read ↗

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

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.Semantic proximity Read ↗

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

Phenotypic variability of TRPV4 related neuropathies.Semantic proximity Read ↗

Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.Semantic proximity Read ↗

De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.Semantic proximity Read ↗

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

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.Semantic proximity Read ↗

Hereditary sensory and autonomic neuropathy types IV and V in Japan.Semantic proximity Read ↗

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

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