As discussed above, we reported the first pathogenic variants causing a primary myopathy in four genes previously linked to other neuromuscular or cardiac diseases: ASCC1, HSPB8, CACNA1S, and MYPN. Moreover, in the MYOCAPTURE project, pathogenic variants were found in 10 new genes not previously linked to a neuromuscular genetic disease in 16 families, including ACTN2, CASQ1, GGPS1, MAP3K20/ZAK, ORAI1, MYO18B, PYROXD1, SRPK3, STIM1, and UNC45B (Tables 2 and 3). This evidence concerns the gene CASQ1 and Genetic neuromuscular disease.