We analyzed DNA from 175 unrelated patients with EDMD and related myopathies, who had previously undergone screening for mutations in the LMNA, EMD, SYNE1/SYNE2 alpha and beta (encoding short isoforms of nesprin-1 and nesprin-2, respectively) and FHL1 genes and in whom no causative mutation had been found. The gene discussed is SYNE2; the disease is myopathy.