RNA-Seq led to the identification of additional pathogenic or likely pathogenic (P/LP) DYSF variants in 17 of these cases (JF362, JF203, JF277, JF368, JF174, JF246, JF242, JF369, C11, C14, C163, C7, JF313, C32, C8, C9, JF67), the identification of possible causative variants in other genes associated with other types of neuromuscular disease in 3 cases (JF15, JF126, JF371), and no additional DYSF variants in 7 cases (JF194, JF130, JF118, JF370, JF392, JF251, JF340) (Supplementary Table S2). The gene discussed is DYSF; the disease is neuromuscular disease.