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Article

Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model.

Human molecular genetics - 6 Jul 2024

McKaige Emily A, Lee Clara, Calcinotto Vanessa, Giri Saveen, Crawford Simon, McGrath Meagan J, Ramm Georg, Bryson-Richardson Robert J

Abstract excerpt

Mutations in DNAJB6 are a well-established cause of limb girdle muscular dystrophy type D1 (LGMD D1). Patients with LGMD D1 develop progressive muscle weakness with histology showing fibre damage, autophagic vacuoles, and aggregates. Whilst there are many reports of LGMD D1 patients, the role of DNAJB6 in the muscle is still unclear. In this study, we developed a loss of function zebrafish model in order to...

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Identifiers

PMID: 38621658
DOI: 10.1093/hmg/ddae061
PMCID: PMC11227618

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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