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Article

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

Nature genetics - 1 Feb 2010

Deng Han-Xiang, Klein Christopher J, Yan Jianhua, Shi Yong, Wu Yanhong, Fecto Faisal, Yau Hau-Jie, Yang Yi, Zhai Hong, Siddique Nailah, Hedley-Whyte E Tessa, Delong Robert, Martina Marco, Dyck Peter J, Siddique Teepu

Abstract excerpt

Scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC, also known as HMSN2C or Charcot-Marie-Tooth disease type 2C (CMT2C)) are phenotypically heterogeneous disorders involving topographically distinct nerves and muscles. We originally desc...

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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: 20037587
DOI: 10.1038/ng.509
PMCID: PMC3786192

Genes

TRPV4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20037587-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.PMID 20037587Read ↗

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

Phenotypic variability of TRPV4 related neuropathies.Semantic proximity Read ↗

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 ↗

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

The puzzle of TRPV4 channelopathies.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 ↗

TRPV4-pathy, a novel channelopathy affecting diverse systems.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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Homozygous <i>TRPV4 mutation</i> causes congenital distal spinal muscular atrophy and arthrogryposisSemantic proximity Read ↗

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

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