Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.
Yoon
G
G
Westmacott
R
R
MacMillan
L
L
Quercia
N
N
Koutsou
P
P
Georghiou
A
A
Christodoulou
K
K
Banwell
B
B
D001072:Apraxias / Q000175:diagnosis / Q000235:genetics*; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics*; D003241:Consanguinity; D004268:DNA-Binding Proteins / Q000235:genetics*; D004185:Disability Evaluation; D004401:Dysarthria / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D009687:Nuclear Proteins / Q000235:genetics*; D015840:Oculomotor Nerve Diseases / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012438:Saccades / Q000235:genetics; D012934:Social Isolation; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*
C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins