Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report

RATIONALE: Autosomal-recessive dopa-responsive dystonia (DRD) is a rare clinical disorder presenting as bradykinesia, dystonia, tremor and even severe encephalopathy, and caused by tyrosine hydroxylase deficiency (THD). We report a case of compound heterozygous mutations in the TH gene in a Chinese...

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Detalles Bibliográficos
Autores principales: Feng, Bangzhe, Sun, Guangfei, Kong, Qingxia, Li, Qiubo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221754/
https://www.ncbi.nlm.nih.gov/pubmed/30383639
http://dx.doi.org/10.1097/MD.0000000000012870

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221754/
https://www.ncbi.nlm.nih.gov/pubmed/30383639
http://dx.doi.org/10.1097/MD.0000000000012870

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