Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women.

doi:10.1212/wnl.43.8.1555

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Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women.

Neurology - 1 Aug 1993

Waters C H, Takahashi H, Wilhelmsen K C, Shubin R, Snow B J, Nygaard T G, Moskowitz C B, Fahn S, Calne D B

Abstract excerpt

Lubag (X-linked dystonia-parkinsonism) has been considered a sex-linked recessive trait and has been mapped to the pericentromeric region of the X chromosome. We studied a 54-year-old man with lubag and two of his female first cousins. Genetic typing was carried out using X chromosome markers. Fluorodopa PET was performed on the man and one of the women. The man had moderately severe parkinsonism and dystonia. A...

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