A novel FLNC variation associated with restrictive cardiomyopathy with an unusually long clinical course

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A novel FLNC variation associated with restrictive cardiomyopathy with an unusually long clinical course — A case report

Published:2023-06 Issue: Volume:31 Page:101769
ISSN:2452-0144
Container-title:Gene Reports
language:en
Short-container-title:Gene Reports

Author:

Kumar Prabodh,Paramasivam Ganesh,Prabhu Mukund A.,Devasia Tom,Rajasekhar Moka

Funder

Science and Engineering Research Board

Manipal Academy of Higher Education

Department of Science and Technology, Ministry of Science and Technology, India

Council of Scientific and Industrial Research, India

Publisher

Elsevier BV

Subject

Genetics

Reference32 articles.

1. FLNC pathogenic variants in patients with cardiomyopathies: prevalence and genotype-phenotype correlations;Ader;Clin. Genet.,2019

2. A global reference for human genetic variation;Auton;Nature,2015

3. Mutations in FLNC are associated with familial restrictive cardiomyopathy;Brodehl;Hum. Mutat.,2016

4. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels;Choi;Bioinformatics,2015

5. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy;Duff;Am. J. Hum. Genet.,2011

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