Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy

Journal of Korean Medical Science

Volumn 26, Issue 9, 2011, Pages 1244-1246

  Lee, Jae Hyeok ^a   Ki, Chang Seok ^b   Kim, Dae Seong ^a   Cho, Jae Wook ^a   Park, Kyung Phil ^a   Kim, Seonhye ^a  

^a Pusan National University Yangsan Hospital   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Cerebral palsy; Diagnostic errors; Dopa responsive; Dystonia; GCH1 gene; Mutation

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA;

ADULT; ARTICLE; CASE REPORT; CEREBRAL PALSY; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; DYSTONIC DISORDER; FEMALE; GENETICS; HUMAN; MUTATION; START CODON;

ADULT; CEREBRAL PALSY; CODON, INITIATOR; DIAGNOSIS, DIFFERENTIAL; DYSTONIC DISORDERS; FEMALE; GTP CYCLOHYDROLASE; HUMANS; LEVODOPA; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 80052788701     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2011.26.9.1244     Document Type: Article

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