Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother

Dopa-responsive dystonia (DRD) is a complex genetic disorder with either autosomal dominant or autosomal recessive inheritance, with autosomal dominant being more frequent. Autosomal dominant DRD is known to be caused by mutations in the GCH1 gene, with incomplete penetrance frequently reported, par...

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Detalles Bibliográficos
Autores principales: Wang, Wendi, Xin, Baozhong, Wang, Heng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7280944/
https://www.ncbi.nlm.nih.gov/pubmed/32183506
http://dx.doi.org/10.14802/jmd.19069

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7280944/
https://www.ncbi.nlm.nih.gov/pubmed/32183506
http://dx.doi.org/10.14802/jmd.19069

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