Three mutations have been identified in the globular head (T441M, V606M and R783P) [20, 29, 53], and three mutations have been identified in the distal rod region overlapping with the myosin storage myopathy region (E1801K, E1856K and K1784del) (Fig. 13) [77, 80]. The gene discussed is MYH14; the disease is myopathy.