Features include always present findings: Inguinal hernia, Dyspnea, Brain atrophy, and Thin corpus callosum and others; and common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Respiratory failure, and Spinal rigidity. 15 total HPO annotations.

DNAJB4 encodes DnaJ heat shock protein family (Hsp40) member B4 (337 aa). Probable chaperone. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) Highest expression in Cells Cultured fibroblasts (107.6 TPM) and Artery Coronary (53.6 TPM).

Congenital myopathy 21 with early respiratory failure is associated with mutations in the DNAJB4 gene on chromosome 1.

DNAJB4 is classified as a druggable target with score 0.0.

Genetic testing for DNAJB4 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 8 always present features, 3 common features.

No clinical trials have been registered for congenital myopathy 21 with early respiratory failure.

2 publications have been identified in PubMed for congenital myopathy 21 with early respiratory failure. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

• Baba Y (2025). [PMID: 39864868](https://pubmed.ncbi.nlm.nih.gov/39864868/). *Rinsho Shinkeigaku*. [Case Report / Case Series]

• Findlay AR (2024). [PMID: 39501809](https://pubmed.ncbi.nlm.nih.gov/39501809/). *Dis Model Mech*. [Review / Meta-Analysis]