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Article

Mitochondrial dysfunction in myofibrillar myopathy.

Neuromuscular disorders : NMD - 1 Oct 2016

Vincent Amy E, Grady John P, Rocha Mariana C, Alston Charlotte L, Rygiel Karolina A, Barresi Rita, Taylor Robert W, Turnbull Doug M

Abstract excerpt

Myofibrillar myopathies (MFM) are characterised by focal myofibrillar destruction and accumulation of myofibrillar elements as protein aggregates. They are caused by mutations in the DES, MYOT, CRYAB, FLNC, BAG3, DNAJB6 and ZASP genes as well as other as yet unidentified genes. Previous studies have reported changes in mitochondrial morphology and cellular positioning, as well as clonally-expanded, large-scale...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 27618136
DOI: 10.1016/j.nmd.2016.08.004
PMCID: PMC5066370

Genes

BAG3
CRYAB
DES
DNAJB6
FLNC
MYOT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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