title: A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy.
authors.affiliation: Department of Neuropediatrics; NeuroCure Clinical Research Center.
authors.forename: G
authors.initials: G
authors.lastname: Schottmann
authors.forename: W
authors.initials: W
authors.lastname: Stenzel
authors.forename: S
authors.initials: S
authors.lastname: Lützkendorf
authors.forename: M
authors.initials: M
authors.lastname: Schuelke
authors.forename: E
authors.initials: E
authors.lastname: Knierim
mesh_terms: D001284:Atrophy; D001369:Axons; D001706:Biopsy; D002526:Cerebellar Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D009046:Motor Neurons; D009132:Muscles / Q000473:pathology; D009431:Neural Conduction; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis
chemical_list: C568481:C19orf12 protein, human; D024101:Mitochondrial Proteins