Associated Papers
Homozygous DNAJB4 deletion revealing myopathy with acute respiratory failure.
Chitimus DM et al.
Revue Neurologique, 2025
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle.
Inoue M
Journal of Human Genetics, 2025
Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
Inoue M et al.
Acta Neuropathologica Communications, 2024
Genotype-phenotype correlation in recessive DNAJB4 myopathy.
Inoue M et al.
Research Square, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Weihl CC et al.
Acta Neuropathologica, 2023
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