Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of neurology - 1 Aug 2015

Koutsis Georgios, Lynch David, Manole Andreea, Manone Andreea, Karadima Georgia, Reilly Mary M, Houlden Henry, Panas Marios

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Charcot-Marie-Tooth Disease
Share to TRPV4 gene
Share to Muscular Dystrophy, Emery-Dreifuss

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Syndrome

Share to TRPV Cation Channels

Source

Identifiers

PMID: 26048687
DOI: 10.1007/s00415-015-7800-x

Genes

TRPV4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.PMID 26048687Read ↗

A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature reviewSemantic proximity Read ↗

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

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.Semantic proximity Read ↗

The puzzle of TRPV4 channelopathies.Semantic proximity Read ↗

Homozygous <i>TRPV4 mutation</i> causes congenital distal spinal muscular atrophy and arthrogryposisSemantic proximity Read ↗

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.Semantic proximity Read ↗

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.Semantic proximity Read ↗

A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4.Semantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.