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Article

BAG3 mutations: another cause of giant axonal neuropathy.

Journal of the peripheral nervous system : JPNS - 1 Jun 2012

Jaffer Fatima, Murphy Sinéad M, Scoto Mariacristina, Healy Estelle, Rossor Alexander M, Brandner Sebastian, Phadke Rahul, Selcen Duygu, Jungbluth Heinz, Muntoni Francesco, Reilly Mary M

Abstract excerpt

Mutations in Bcl-2 associated athanogene-3 (BAG3) are a rare cause of myofibrillar myopathy, characterised by rapidly progressive proximal and axial myopathy, cardiomyopathy and respiratory compromise. Neuropathy has been documented neurophysiologically in previously reported cases of BAG3-associated myofibrillar myopathy and in some cases giant axons were observed on nerve biopsies; however, neuropathy was not...

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Identifiers

PMID: 22734908
DOI: 10.1111/j.1529-8027.2012.00409.x

Genes

BAG3
NEFL

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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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