AIFM1 and X-linked Charcot-Marie-Tooth disease type 4: Diseases caused by AIFM1 gene mutations have previously been described as progressive mitochondrial encephalomyopathy (c.601_603delAGA, p.Arg201 deletion), Cowchock syndrome (c.1478A>T, p.Glu493Val missense mutation) or auditory neuropathy (c.1288C>T, p.Arg430Cys missense mutation) (Ghezzi et al., 2010; Berger et al., 2011; Rinaldi et al., 2012; Kettwig et al., 2015; Zong et al., 2015).