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Article

BAG3 myopathy is not always associated with cardiomyopathy.

Neuromuscular disorders : NMD - 1 Sept 2018

Andersen Annarita Ghosh, Fornander Freja, Schrøder Henrik Daa, Krag Thomas, Straub Volker, Duno Morten, Vissing John

Abstract excerpt

Bag3opathy is a rare myofibrillar myopathy (MFM) caused by a mutation in the Bcl-2 associated-athanogene-3 gene. Less than twenty patients have been described, almost all with severe cardiac involvement. We present a 26-year-old man with a c.626C>T (p.Pro209Leu) mutation in the Bcl-2 associated-athanogene-3 gene (BAG3). Our patient presented with problems running before he turned 10 and rapidly progressing,...

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Source

Identifiers

PMID: 30061062
DOI: 10.1016/j.nmd.2018.06.019

Genes

BAG3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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