Dopa-Responsive Dystonia: A Male Patient Inherited a Novel 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...
| 出版年: | Journal of Movement Disorders |
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| 主要な著者: | , , |
| フォーマット: | 論文 |
| 言語: | 英語 |
| 出版事項: |
Korean Movement Disorder Society
2020-05-01
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| 主題: | |
| オンライン･アクセス: | http://www.e-jmd.org/upload/jmd-19069.pdf |