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Article

Intrafamilial phenotypic and genetic heterogeneity of dystonia.

Journal of the neurological sciences - 1 Dec 2006

Kostić Vladimir S, Svetel Marina, Kabakci Kemal, Ristić Aleksandar, Petrović Igor, Schüle Birgitt, Kock Norman, Djarmati Ana, Romac Stanka, Klein Christine

Abstract excerpt

Most cases of early-onset primary torsion dystonia are caused by the same 3-bp (GAG) deletion in the DYT1 gene. We describe a large Serbian family with significant intrafamilial variability of the DYT1 phenotype, from asymptomatic carrier status to late-onset focal, and generalized jerky dystonia. Seven mutation carriers (six proven by direct analysis and one by inferred haplotype) were identified, but only two...

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PMID: 17027035
DOI: 10.1016/j.jns.2006.07.010

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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