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

Dopa-responsive dystonia (DRD), also known as Segawa syndrome, is a phenotypically and genetically heterogeneous group of neurological disorders that typically presents as early-onset lower limb dystonia with diurnal fluctuation, and exhibits a marked, persistent response to levodopa. Heterozygous l...

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Detalles Bibliográficos
Autores principales: Hasegawa, Takafumi, Hosaka, Tatsuhiko, Harada, Ryuhei, Kawahata, Ichiro, Hoshino, Kyoko, Sugeno, Naoto, Kikuchi, Akio, Aoki, Masashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8356262/
https://www.ncbi.nlm.nih.gov/pubmed/34394914
http://dx.doi.org/10.12688/f1000research.51433.1

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