- Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy
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Lee JH, Ki CS, Kim DS, Cho JW, Park KP, Kim S
- KMID: 1779403
- J Korean Med Sci.
- 2011 Sep;26(9):1244-1246.
- doi: 10.3346/jkms.2011.26.9.1244
Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic response to relatively low doses of levodopa. However, patients with DRD can be misdiagnosed as cerebral... -
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