Three novel <i>FHL1</i> variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy-Reference-Cited by-同舟云学术

Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy

Published:2022-07-16 Issue:9 Volume:43 Page:1234-1238
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Borch Josefine d. S.¹^ORCID,Krag Thomas¹,Holm‐Yildiz Sonja D.¹,Cetin Hakan²,Solheim Tuva A.¹,Fornander Freja¹,Straub Volker³,Duno Morten⁴,Vissing John¹^ORCID

Affiliation:

1. Department of Neurology, Rigshospitalet, Copenhagen Neuromuscular Center University of Copenhagen Copenhagen Denmark

2. Department of Neurology Medical University of Vienna Vienna Austria

3. John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle Upon Tyne UK

4. Department of Clinical Genetics, Section 4062, Rigshospitalet University of Copenhagen Copenhagen Denmark

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24415

Reference15 articles.

1. Bonne G. Leturcq F. &Ben Yaou R.(2019).Emery‐Dreifuss muscular dystrophy.GeneReviews® http://www.ncbi.nlm.nih.gov/pubmed/20301609

2. Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy – a case report

3. Left ventricular hypertrophy caused by a novel nonsense mutation in FHL1

4. Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

5. Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation

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