The genes encoding for nebulin (NEB) and a-actin (ACTA1) are the most common genetic cause of nemaline myopathies, although at least 11 other genes have been related with this disease (TPM3, TPM2, MYPN, KLHL40, KLHL41, LMOD3, CFL2, TNNT1, TNNT3, MYO18B, KBTBD13) [12,13]. The gene discussed is KLHL40; the disease is nemaline myopathy.