Mutation in JPH2 cause dilated cardiomyopathy
Author:
Affiliation:
1. Inherited Cardiac Disease Unit; University Hospital Virgen de la Arrixaca; Murcia Spain
2. Department of Cardiology; University Hospital Virgen de la Arrixaca; Murcia Spain
Funder
FIS
Cardiovascular Research Network
Health Institute Carlos III
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12825/fullpdf
Reference5 articles.
1. Junctophilins: a novel family of junctional membrane complex proteins;Takeshima;Mol Cell,2000
2. Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy;Matsushita;J Hum Genet,2007
3. Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans;Landstrom;J Mol Cell Cardiol,2007
4. Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience;Spaendonck-Zwarts;Eur J Heart Fail,2013
5. Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization;Beavers;J Am Coll Cardiol,2013
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