Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI.
Camargos
S T
ST
Gurgel-Giannetti
J
J
Lees
A
A
Hardy
J
J
Singleton
A
A
Cardoso
F
F
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001480:Basal Ganglia Diseases / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D001923:Brain Chemistry; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics; D005260:Female; D020271:Heredodegenerative Disorders, Nervous System / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D055815:Young Adult
D007501:Iron; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase