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Article

Genotype‒phenotype correlation in recessive DNAJB4 myopathy.

Acta neuropathologica communications - 28 Oct 2024

Inoue Michio, Jayaraman Divya, Bengoechea Rocio, Bhadra Ankan, Genetti Casie A, Aldeeri Abdulrahman A, Turan Betül, Pacheco-Orozco Rafael Adrian, Al-Maawali Almundher, Al Hashmi Nadia, Zamani Ayşe Gül, Göktaş Emine, Pekcan Sevgi, Çağlar Hanife Tuğçe, True Heather, Beggs Alan H, Weihl Conrad C

Abstract excerpt

Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role in cellular proteostasis. Recessive loss-of-function variants in DNAJB4 cause myopathy with early respiratory failure and spinal rigidity, presenting from infancy to adulthood. This study investigated the broader...

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Identifiers

PMID: 39468638
DOI: 10.1186/s40478-024-01878-w
PMCID: PMC11514740

Genes

DNAJB4

Provenance

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