Several OBSCN variants with pathological relevance to skeletal muscle tissues have been identified, including the R4444W missense mutation in the titin-interacting Ig59 domain in a family presenting with distal muscular dystrophy (Rossi et al., 2017) and loss-of-function OBSCN variants linked to rhabdomyolysis and altered Ca2+ handling (Cabrera-Serrano et al., 2022; Zemorshidi et al., 2024). This evidence concerns the gene OBSCN and distal myopathy.