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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm.

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 this receptor.[1]


  1. A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. Misbahuddin, A., Placzek, M.R., Chaudhuri, K.R., Wood, N.W., Bhatia, K.P., Warner, T.T. Neurology (2002) [Pubmed]
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