A mutation update for the FLNC gene in myopathies and cardiomyopathies-Reference-Cited by-同舟云学术

A mutation update for the FLNC gene in myopathies and cardiomyopathies

Published:2020-03-20 Issue:6 Volume:41 Page:1091-1111
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Verdonschot Job A. J.¹²^ORCID,Vanhoutte Els K.¹,Claes Godelieve R. F.¹,Helderman‐van den Enden Apollonia T. J. M.¹,Hoeijmakers Janneke G. J.³,Hellebrekers Debby M. E. I.¹,Haan Amber¹,Christiaans Imke⁴⁵,Lekanne Deprez Ronald H.⁴,Boen Hanne M.⁶,Craenenbroeck Emeline M.⁶,Loeys Bart L.⁷,Hoedemaekers Yvonne M.⁵⁸,Marcelis Carlo⁸,Kempers Marlies⁸,Brusse Esther⁹,Waning Jaap I.¹⁰¹¹,Baas Annette F.¹²,Dooijes Dennis¹²,Asselbergs Folkert W.¹³,Barge‐Schaapveld Daniela Q. C. M.¹⁴,Koopman Pieter¹⁵,Wijngaard Arthur¹,Heymans Stephane R. B.²¹⁶¹⁷,Krapels Ingrid P. C.¹,Brunner Han G.¹⁸¹⁸

Affiliation:

1. Department of Clinical GeneticsMaastricht University Medical Center Maastricht The Netherlands

2. Department of Cardiology, Cardiovascular Research Institute (CARIM)Maastricht University Medical Center Maastricht The Netherlands

3. Department of NeurologyMaastricht University Medical Center Maastricht The Netherlands

4. Department of Clinical GeneticsAmsterdam University Medical Center Amsterdam The Netherlands

5. Department of Clinical GeneticsUniversity Medical Centre Groningen Groningen The Netherlands

6. Department of Cardiology, Antwerp University HospitalUniversity of Antwerp Antwerp Belgium

7. Department of Medical Genetics, Antwerp University HospitalUniversity of Antwerp Antwerp Belgium

8. Department of Clinical GeneticsRadboud University Medical Centre Nijmegen The Netherlands

9. Department of NeurologyErasmus MC University Medical Centre Rotterdam The Netherlands

10. Department of Clinical GeneticsErasmus Medical Center Rotterdam The Netherlands

11. Department of CardiologyRadboud University Medical Centre Nijmegen The Netherlands

12. Department of GeneticsUniversity Medical Center Utrecht Utrecht The Netherlands

13. Department of CardiologyUniversity Medical Center Utrecht Utrecht The Netherlands

14. Department of Clinical GeneticsLeiden University Medical Center The Netherlands

15. Department of CardiologyHeart Center Hasselt Belgium

16. Department of Cardiovascular SciencesCentre for Molecular and Vascular Biology, KU Leuven Leuven Belgium

17. The Netherlands Heart Institute Utrecht The Netherlands

18. Department of Genetics and Cell BiologyGROW Institute for Developmental Biology and Cancer, Maastricht University Medical Centre Maastricht The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24004

Reference87 articles.

1. FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations

2. Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data

3. Evaluation of sarcoglycans, vinculin‐talin‐integrin system and filamin2 in alpha‐ and gamma‐sarcoglycanopathy: An immunohistochemical study;Anastasi G.;International Journal of Molecular Medicine,2004

4. Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: A comprehensive genotype‐imaging phenotype study;Augusto J. B.;European Heart Journal Cardiovascular Imaging,2019

5. P2.18 A novel missense FLNC mutation causes arrhythmia and late onset myofibrillar myopathy with particular histopathology features

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