Recently, missense mutations in ATP7A were found to cause a form of dHMN (Kennerson et al., 2010; Yi et al., 2012), which represents the third clinical phenotype associated with mutations in ATP7A. dHMNs are a clinically and genetically heterogeneous group of diseases characterized by lower-motor neuron weakness and muscular atrophy (Rossor et al., 2012). This evidence concerns the gene ATP7A and muscular atrophy.