Autosomal‐dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in‐frame DSP nonsense mutation-Reference-Cited by-同舟云学术

Autosomal‐dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in‐frame DSP nonsense mutation

Published:2018-07 Issue:7 Volume:176 Page:1622-1626
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Singh Sajya M.¹^ORCID,Casey Susan A.¹,Berg Allison A.²,Abdelhadi Raed H.¹,Katsiyiannis William T.¹,Bennett Mosi K.¹,Mackey‐Bojack Shannon³,Duncanson Emily R.³,Sengupta Jay D.¹

Affiliation:

1. ResearchMinneapolis Heart Institute FoundationMinneapolis Minnesota

2. Genomic MedicineChildren's MinnesotaMinneapolis Minnesota

3. Jesse E. Edwards Registry of Cardiovascular DiseaseNasseff Heart Center, United HospitalSt. Paul Minnesota

Funder

Minneapolis Heart Institute Foundation

Medtronic

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38719

Reference21 articles.

1. Arrhythmogenic right ventricular cardiomyopathy

2. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations

3. Arrhythmogenic Right Ventricular Cardiomyopathy

4. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

5. Desmoplakin Is Required Early in Development for Assembly of Desmosomes and Cytoskeletal Linkage

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