Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34327/fullpdf
Reference9 articles.
1. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C;Auer-Grumbach;Nat Genet,2010
2. Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation;Berciano;J Neurol,2011
3. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene;Chen;Neurology,2010
4. TRPV4-pathy, a novel channelopathy affecting diverse systems;Dai;J Hum Genet,2010
5. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4;Deng;Nat Genet,2010
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1. Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series;Neuromuscular Diseases;2023-06-15
2. Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy;Neurology;2014-04-30
3. Hereditary Channelopathies Caused by TRPV4 Mutations;Pathologies of Calcium Channels;2013-11-09
4. The puzzle of TRPV4 channelopathies;EMBO reports;2013-01-11
5. Comprehensive analysis of theTRPV4gene in a large series of inherited neuropathies and controls;Journal of Neurology, Neurosurgery & Psychiatry;2012-07-31
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