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Article

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1

6 Sept 2007

Abstract excerpt

OBJECTIVE: To report the study of a multigenerational Swiss family with dopa-responsive dystonia (DRD). METHODS: Clinical investigation was made of available family members, including historical and chart reviews. Subject examinations were video recorded. Genetic analysis included a genome-wide linkage study with microsatellite markers (STR), GTP cyclohydrolase I (GCH1) gene sequencing, and dosage analysis....

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Identifiers

PMID: 17804835
DOI: 10.1212/01.wnl.0000275527.35752.c5

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