Title : Case Report: Guitarist's cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutation.

Pub. Date : 2021

PMID : 34394914






1 Functional Relationships(s)
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1 The dystonic symptoms responded very well to levodopa treatment, and genetic analysis identified a novel heterozygous mutation in the C-terminal catalytic domain of GCH1. Levodopa GTP cyclohydrolase 1 Homo sapiens