EPG5 and Vici syndrome: The phenotype of epg5-/-KO mice recapitulates the autophagy defect and the skeletal muscle myopathy seen in humans with Vici syndrome [24], and in addition exhibits clinical and pathological neurodegenerative features, in particular progressive motor deficit, muscle atrophy and damage of cortical 5 layer and spinal motor neurones, resembling human amyotrophic lateral sclerosis (ALS).