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Article

Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol.

Annals of neurology - 1 Sept 1998

Klein C, Pramstaller P P, Castellan C C, Breakefield X O, Kramer P L, Ozelius L J

Abstract excerpt

The gene causing early-onset torsion dystonia (DYT1) has recently been identified, and two new dystonia genes, one for adult-onset focal dystonia (DYT7) and one for a mixed dystonia phenotype (DYT6), have been mapped. We evaluated clinically a family from South Tyrol (Northern Italy) with 6 definitely affected individuals who display an unusually large phenotypic range of dystonic symptoms. We excluded the GAG...

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PMID: 9749609
DOI: 10.1002/ana.410440318

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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