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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Detaylı Bibliyografya
Yayımlandı:Parkinsonism Relat Disord
Asıl Yazarlar: Bally, Julien F., Breen, David P., Schaake, Susen, Trinh, Joanne, Rakovic, Aleksandar, Klein, Christine, Lang, Anthony E.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier Science 2020
Konular:
Article
Online Erişim: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
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