Tedesco, B., Peric, S., Kocak, G. S., Tan, J., Duong, H., Töpf, A., Rakocevic-Stojanovic, V., Milenkovic, S., Parkhurst, Y., Gibbs, L., Martin-Rios, A., Lambiase, P. D., Guttmann, O. P., Marini-Bettolo, C., Harris, E., Harms, M. B., Ivanovic, V., Marchesi, V., Milone, M., … Kimonis, V. (2025). Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models. European Journal of Human Genetics. https://doi.org/10.1038/s41431-025-01868-z