Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review-Reference-Cited by-同舟云学术

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Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review

Published:2022-09 Issue:1 Volume:24 Page:49-54
ISSN:1522-0443
Container-title:Journal of Clinical Neuromuscular Disease
language:en
Short-container-title:

Author:

Akaba Yuichi,Takeguchi Ryo,Tanaka Ryosuke,Makita Yoshio,Kimura Takashi,Yanagi Kumiko,Kaname Tadashi,Nishino Ichizo,Takahashi Satoru

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical),Neurology,General Medicine

Reference19 articles.

1. Mutation in BAG3 causes severe dominant childhood muscular dystrophy;Selcen;Ann Neurol,2009

2. Myofibrillar myopathy in the genomic context;Fichna;J Appl Genet,2018

3. BAG3 deficiency results in fulminant myopathy and early lethality;Homma;Am J Pathol,2006

4. Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation;Odgerel;Neuromuscul Disord,2010

5. BAG3 mutations: another cause of giant axonal neuropathy;Jaffer;J Peripher Nerv Syst,2012

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A case report of adolescent myofibrillar myopathy due to a de novo R406W pathogenic variant in desmin with symptoms of “hypertrophic cardiomyopathy”;Heliyon;2024-02

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