Severe dilated cardiomyopathy and ventricular arrhythmia in a patient with Emery‐Dreifuss muscular dystrophy harboring a novel frameshift mutation in EMD-Reference-Cited by-同舟云学术

Severe dilated cardiomyopathy and ventricular arrhythmia in a patient with Emery‐Dreifuss muscular dystrophy harboring a novel frameshift mutation in EMD

Published:2021-10-02 Issue:6 Volume:9 Page:490-493
ISSN:2049-4173
Container-title:Neurology and Clinical Neuroscience
language:en
Short-container-title:Neurol Clin Neurosci

Author:

Mitsutake Akihiko¹^ORCID,Unuma Atsushi¹,Kawai Mizuho¹,Kubota Akatsuki¹,Ishiura Hiroyuki¹^ORCID,Sakuishi Kaori¹,Shimizu Jun¹,Maki Hisataka²³,Amiya Eisuke²⁴,Hatano Masaru²⁴,Komuro Issei²,Tsuji Shoji⁵⁶,Toda Tatsushi¹

Affiliation:

1. Department of Neurology The University of Tokyo Hospital Tokyo Japan

2. Department of Cardiology The University of Tokyo Hospital Tokyo Japan

3. Department of Cardiology Saitama Medical Center Jichi Medical University Saitama Japan

4. Department of Therapeutic Strategy for Heart Failure Graduate School of Medicine The University of Tokyo Tokyo Japan

5. Department of Molecular Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan

6. Institute of Medical Genomics International University of Health and Welfare Narita Japan

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ncn3.12552

Reference10 articles.

1. Cardiac and muscle imaging findings in a family with X-linked Emery–Dreifuss muscular dystrophy

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

3. Genotype-phenotype analysis in X-linked Emery–Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype

4. Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies

5. Emery‐Dreifuss muscular dystrophy