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A novel family with an unusual early-onset generalized dystonia.

Abstract:

We report on an Italian family in which three brothers and their maternal grandfather had a generalized early-onset dystonia with mild parkinsonian signs. Genetic testing excluded the rapid-onset dystonia-parkinsonism locus (DYT12; OMIM*128235), autosomal recessive Parkin locus (PARK2; OMIM *602544), and DYT1 dystonia. Three affected siblings were found to share an identical haplotype at the X-linked dystonia-parkinsonism locus (XDP; Lubag; OMIM*314250). This haplotype differed from the haplo...

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Publication status:
Published

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Publisher copy:
10.1002/mds.20267

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Role:
Author
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Journal:
Movement disorders : official journal of the Movement Disorder Society
Volume:
20
Issue:
1
Pages:
81-86
Publication date:
2005-01-05
DOI:
EISSN:
1531-8257
ISSN:
0885-3185
URN:
uuid:b6d083b6-c975-4501-b318-d69b338f23d1
Source identifiers:
346118
Local pid:
pubs:346118

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