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Article

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

Journal of clinical neuromuscular disease - 1 Sept 2022

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

Abstract excerpt

ABSTRACT: Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar degeneration. Bcl-2-associated athanogene 3 (BAG3)-related myopathy is the rarest form of myofibrillar myopathy. Patients with BAG3-related myopathy present with early-onset and progressive muscle weakness, rigid spine, respiratory insufficiency, and cardiomyopathy. Notably, the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36005473
DOI: 10.1097/CND.0000000000000392

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