Article
A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm.
Neurology - 8 Jan 2002
Misbahuddin A, Placzek M R, Chaudhuri K R, Wood N W, Bhatia K P, Warner T T
Abstract excerpt
Abnormalities in dopamine neurotransmission are thought to underlie the generation of dystonic movements. The authors performed a case-control allelic association study in patients with the focal dystonia blepharospasm, using polymorphisms in the dopamine receptor and transporter genes. Allele 2 of a DRD5 dinucleotide repeat was significantly associated with blepharospasm. This may indicate a pathogenic role for...
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