A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements.
Egan
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RA
Department of Neurology, Oregon Health Sciences University, Portland, Oreg., USA.
Camicioli
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R
Popovich
B W
BW
D000368:Aged; D000483:Alleles; D000067699:Ataxin-3; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D017827:Machado-Joseph Disease / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D012097:Repressor Proteins; D018911:Trinucleotide Repeats / Q000235:genetics*
D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3