Article

Genotype‒phenotype correlation in recessive DNAJB4 myopathy

2024-10-14

Abstract excerpt

<title>Abstract</title> <p>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 <italic>DNAJB4</italic> cause myopathy with early respiratory failure and spinal rigidity, presenting from infancy to ad...

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Literature Corpus work: 77450609-c9cf-5a9c-90e0-9241bed7f680
DOI: 10.21203/rs.3.rs-4915388/v1

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