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Inter and intra-generational phenotypic variability in a Portuguese family with DYT-GCH1

Title
Inter and intra-generational phenotypic variability in a Portuguese family with DYT-GCH1
Type
Another Publication in an International Scientific Journal
Year
2021
Authors
Pinto, MJ
(Author)
FMUP
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Sabenca, F
(Author)
Other
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Soares, C
(Author)
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Oliveira, A
(Author)
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Rosas, MJ
(Author)
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Journal
Vol. 86
Pages: 81-83
ISSN: 1353-8020
Publisher: Elsevier
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Other information
Authenticus ID: P-00T-V71
Abstract (EN): DYT-GCH1 is the most common form of Dopa-responsive dystonia. We analysed a three-generation Portuguese family with the same variant of DYT-GCH1. Dystonia and parkinsonism were found, along with non-motor symptoms. There was a wide array of phenotypic manifestations. Further studies are needed to explain the wide clinical expression of this entity.
Language: English
Type (Professor's evaluation): Scientific
No. of pages: 3
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