Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy.

scientific article published on 12 July 2017

Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/EJHG.2017.109
P932PMC publication ID5602010
P698PubMed publication ID28699631

P50authorGaetano ThieneQ29840356
Barbara BauceQ29840367
Martina Perazzolo MarraQ29840387
Domenico CorradoQ56529119
Sabino IlicetoQ61165243
P2093author name stringCristina Basso
Luciano Daliento
Alessandra Lorenzon
Alessandra Rampazzo
Martina Calore
Marzia De Bortoli
Ilaria Rigato
Paola Melacini
Elisa Mazzotti
Giulia Poloni
Chiara Calore
P2860cites workDouble or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factorsQ84756866
Myotonic dystrophy: time for evidence-based therapyQ88092861
Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathyQ24302785
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of lifeQ28258303
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasiaQ28272287
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathyQ28299300
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).Q33164685
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyQ34465792
Right ventricular cardiomyopathy and sudden death in young peopleQ34687427
Genetic advances in sarcomeric cardiomyopathies: state of the art.Q35145962
Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations.Q35488614
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencingQ36712985
Pathophysiology of arrhythmogenic cardiomyopathyQ37962327
Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicineQ38226642
Arrhythmogenic cardiomyopathy: a disease of intercalated discsQ38262612
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria.Q55638651
Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathyQ56972986
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathyQ58544806
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.Q64934138
Screening for hypertrophic cardiomyopathy in young athletesQ74837363
Cardiovascular magnetic resonance signs of ischemia in hypertrophic cardiomyopathyQ80648664
2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice GuidelinesQ82432332
P433issue10
P304page(s)1165-1169
P577publication date2017-07-12
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleCo-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy.
P478volume25

Reverse relations

cites work (P2860)
Q61817017Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy
Q64965420Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.
Q92877507Response by Sakamoto et al to Letter Regarding Article, "Left-Dominant Arrhythmogenic Cardiomyopathy With Heterozygous Mutations in DSP and MYBPC3"

Search more.