Title : Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion.

Pub. Date : 1995 Oct

PMID : 7574470






1 Functional Relationships(s)
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1 We have demonstrated expansion of the CAG trinucleotide repeat of the MJD1 gene located on chromosome 14q32.1 in 2 patients of Azorean descent who presented with levodopa-responsive atypical parkinsonism. trinucleotide ataxin 3 Homo sapiens