In humans, autosomal dominant missense variants in LDB3 that affect only short isoforms are associated with skeletal myopathies [9], while variants affecting only long isoforms are primarily associated with cardiomyopathies [8, 19]; however bi-allelic or loss-of-function LDB3 variants have yet to be reported [3]. This evidence concerns the gene LDB3 and Skeletal myopathy.