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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...
Autores principales: | Feng, Bangzhe, Sun, Guangfei, Kong, Qingxia, Li, Qiubo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2018
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Materias: | |
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 |
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