An international consortium of researchers and clinicians report the clinical and biological data of patients diagnosed with DNAJB4-related myopathy:
- 5 families of distinct and unrelated ethnic origins were included in the study following the discovery of 5 pathogenic variants of the DNAJB4 gene, including three with loss of function,
- the clinical picture combined spinal rigidity and early-onset restrictive respiratory failure to varying degrees,
- patients with missense variants located in the J domain of the protein were more severely affected.
This work will contribute to a better understanding of the natural history of this emerging myopathy, which, like most myofibrillar myopathies, is classified as a myopathy with protein aggregates.
