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Article

Unusual phenotypic expression of the DYT1 mutation.

Parkinsonism & related disorders - 1 Jun 2003

Gatto Emilia Mabel, Pardal Manuel María Fernandez, Micheli Federico Eduardo

Abstract excerpt

Highly variable phenotype expression has long been recognized in DYT1 carrier patients. We report here an Ashkenazi-Jewish woman who carried a DYT1 mutation and developed a predominant unilateral myoclonic-dystonia (MD) displaying a fluctuating course. The present case is the second supporting the variability of DYT1 phenotype and further illustrates its ability to mimic the MD syndrome.

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Identifiers

PMID: 12781594
DOI: 10.1016/s1353-8020(02)00128-1

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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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