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Article

Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder.

American journal of medical genetics. Part A - 1 Dec 2011

Aharoni Sharon, Harlalka Gaurav, Offiah Amaka, Shuper Avinoam, Crosby Andrew H, McEntagart Meriel

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Source

Identifiers

PMID: 22065612
DOI: 10.1002/ajmg.a.34327

Genes

TRPV4

Provenance

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Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder.PMID 22065612Read ↗

TRPV4 axonal neuropathy spectrum disorder.Semantic proximity Read ↗

Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot–Marie–Tooth Disease Type 2Semantic proximity Read ↗

Phenotypic variability of TRPV4 related neuropathies.Semantic proximity Read ↗

The puzzle of TRPV4 channelopathies.Semantic 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 ↗

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

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

TRPV4-pathy, a novel channelopathy affecting diverse systems.Semantic proximity Read ↗

Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.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 ↗

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