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Article

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.

Acta neuropathologica communications - 5 Feb 2016

Sandell Satu, Huovinen Sanna, Palmio Johanna, Raheem Olayinka, Lindfors Mikaela, Zhao Fang, Haapasalo Hannu, Udd Bjarne

Abstract excerpt

INTRODUCTION: Limb girdle muscular dystrophies are a large group of both dominantly and recessively inherited muscle diseases. LGMD1D is caused by mutated DNAJB6 and the molecular pathogenesis is mediated by defective chaperonal function leading to impaired handling of misfolded proteins which normally would be degraded. Here we aim to clarify muscle pathology of LGMD1D in order to facilitate diagnostic accuracy....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26847086
DOI: 10.1186/s40478-016-0276-9
PMCID: PMC4743201

Genes

DNAJB6
BAG3

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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