Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?

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 pa...

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Detalles Bibliográficos
Autores principales: Bally, Julien F., Breen, David P., Schaake, Susen, Trinh, Joanne, Rakovic, Aleksandar, Klein, Christine, Lang, Anthony E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Science 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109519/
https://www.ncbi.nlm.nih.gov/pubmed/32018151
http://dx.doi.org/10.1016/j.parkreldis.2020.01.017

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109519/
https://www.ncbi.nlm.nih.gov/pubmed/32018151
http://dx.doi.org/10.1016/j.parkreldis.2020.01.017

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