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...
محفوظ في:
| المؤلفون الرئيسيون: | , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Korean Movement Disorder Society
2020-05-01
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| سلاسل: | Journal of Movement Disorders |
| الموضوعات: | |
| الوصول للمادة أونلاين: | http://www.e-jmd.org/upload/jmd-19069.pdf |
| الوسوم: |
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