Ontology highlight
ABSTRACT:
SUBMITTER: Bally JF
PROVIDER: S-EPMC7109519 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Parkinsonism & related disorders 20200130
We present a case of mild, adult-onset dopa-responsive dystonia (DRD) with a heterozygous mutation in the tyrosine hydroxylase (TH) gene. We propose that this genetic state may have led to partial enzyme deficiency. Future studies should attempt to identify and characterize the phenotype of other patients with single TH variants. ...[more]