Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy-Reference-Cited by-同舟云学术

Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy

Published:2018-10-22 Issue:12 Volume:39 Page:2083-2096
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Schubert Jeffrey¹²,Tariq Muhammad³,Geddes Gabrielle⁴,Kindel Steven⁴,Miller Erin M.⁵,Ware Stephanie M.²^ORCID

Affiliation:

1. Department of Molecular Genetics, Microbiology, and Biochemistry; University of Cincinnati College of Medicine; Cincinnati Ohio

2. Departments of Pediatrics and Medical and Molecular Genetics; Indiana University School of Medicine; Indianapolis Indiana

3. Faculty of Applied Medical Science; University of Tabuk; Tabuk Kingdom of Saudi Arabia

4. Department of Pediatrics; Medical College of Wisconsin; Milwaukee Wisconsin

5. Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

Funder

American Heart Association

AHA Postdoctoral Fellowship Award

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23661/fullpdf

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3. Chaperone-assisted selective autophagy is essential for muscle maintenance;Arndt;Current Biology,2010

4. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC;Avila-Smirnow;Revue Neurologique,2016

5. Filamin C truncation mutations are associated with arrhythmogenic dilated cardiomyopathy and changes in the cell-cell adhesion structures;Begay;JACC: Clinical Electrophysiology,2018

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