High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia

Annals of Neurology

Volumn 43, Issue 5, 1998, Pages 634-639

  Steinberger, D ^a   Weber, Y ^a   Korinthenberg, R ^b   Deuschl, G ^c   Benecke, R ^d   Martinius, J ^e   Muller U ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b Abt Neuropadiatrie M   (Germany)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^d UNIVERSITY OF ROSTOCK   (Germany)

^e Heckscher Klinik   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARBIDOPA; CARBIDOPA PLUS LEVODOPA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; DYSTONIA; FEMALE; GAIT DISORDER; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MALE; MOTOR DYSFUNCTION; PENETRANCE; PRIORITY JOURNAL;

EID: 0031958577     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410430512     Document Type: Article

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