In this study, we reported a family with X-linked AIFM1-associated disease and detected a novel missense variant (NM_004208.3: c.931C>G: p.L311V) in AIFM1. Affected individuals presented severe symptoms, including axonal sensory-motor neuropathy damage, distal muscle weakness, and atrophy, exhibited classic symptoms of Charcot-Marie-Tooth (CMT) disease, such as deafness and intellectual disability, which are consistent with the typical symptoms of the Cowchock syndrome, as described in previous studies. The gene discussed is AIFM1; the disease is Charcot-Marie-Tooth disease.