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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Parkinsonism Relat Disord
Main Authors: Bally, Julien F., Breen, David P., Schaake, Susen, Trinh, Joanne, Rakovic, Aleksandar, Klein, Christine, Lang, Anthony E.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier Science 2020
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7109519/
https://ncbi.nlm.nih.gov/pubmed/32018151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2020.01.017
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares