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...
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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Korean Movement Disorder Society
2020-05-01
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| Schriftenreihe: | Journal of Movement Disorders |
| Schlagworte: | |
| Online-Zugang: | http://www.e-jmd.org/upload/jmd-19069.pdf |
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