MYOT and myopathy: These myopathies are related to mutations in six different genes encoding sarcomeric Z-disc elements and related proteins, i.e. desmin (3), myotilin (4), αB-crystallin (5), Z-band alternatively spliced PDZ motif containing protein (ZASP) (6), filamin C (7) and four-and-a-half-LIM protein 1 (FHL1) (8), with myotilin defects being among the most common.