Most of the genes analyzed in this study are clearly expressed in (a) general muscle contraction, including striated muscle (such as ACTA1, DMD, RYR1, TTN); (b) ECM physiology, including organization, degradation, ECM–proteoglycans and non-integrin membrane–ECM interactions (most of the genes included encodes collagen components, such as COL1A2, COL6A1, COL6A2, COL6A3, COL6A6, COL12A1, COL13A1); and (c) with nervous system development, including channelopathies (calcium channels: CACNA1S; sodium channels: SCN4A), muscular dystrophies (LAMA2), and myopathies (TAZ). This evidence concerns the gene CACNA1S and myopathy.