MYH6 and Skeletal myopathy: Previous publications have highlighted that point mutations or deletions in similar regions of the MyHC molecule lead to muscle phenotype and dilated cardiomyopathy and/or skeletal myopathy,30, 31, 32, 33, 34, 35, 36, 37 including Arg1193His, Arg1193Ser, Ser1297Val, Ala1332Thr, Arg1344Trp, Glu1426Lys, Arg1434Cys, Lys1444Glu, Lys1729del, and K1784del.