A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease [5]

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 79, Issue 2, 2008, Pages 229-

  Von Mering, M ^a   Gabriel, H ^b   Opladen, T ^c   Hoffmann, G F ^c   Storch, Alexander ^a,d  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b Center of Medical Genetics and Primary Health Care   (Armenia)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d Department of Neurology ^*  (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE DERIVATIVE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; SEROTONIN DERIVATIVE; 5,6,7,8-TETRAHYDROBIOPTERIN; BIOPTERIN; DOPAMINE; DRUG DERIVATIVE; GUANINE NUCLEOTIDE; NEOPTERIN; SEROTONIN; TETRAHYDROBIOPTERIN; UNCLASSIFIED DRUG;

ADULT; CASE REPORT; DYSTONIA; ENZYME POLYMORPHISM; FEMALE; GAIT DISORDER; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; LETTER; LOW DRUG DOSE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PES EQUINOVARUS; PRIORITY JOURNAL; SEGAWA DISEASE; CEREBROSPINAL FLUID; CHROMOSOME ABERRATION; CHROMOSOME DELETION; DNA BASE COMPOSITION; DNA SEQUENCE; DOMINANT GENE; EXON; FIBROBLAST; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION; GENETICS; HETEROZYGOTE; METABOLISM; NUCLEOTIDE SEQUENCE; SEQUENCE ANALYSIS;

ADULT; BASE COMPOSITION; BIOPTERIN; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; DNA MUTATIONAL ANALYSIS; DOPAMINE; DYSTONIC DISORDERS; EXONS; FEMALE; FIBROBLASTS; FRAMESHIFT MUTATION; GENES, DOMINANT; GTP CYCLOHYDROLASE; GUANINE NUCLEOTIDES; HETEROZYGOTE; HUMANS; MUTAGENESIS, INSERTIONAL; NEOPTERIN; SEQUENCE ANALYSIS, DNA; SEQUENCE ANALYSIS, PROTEIN; SEROTONIN;

EID: 38849119146     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2007.130849     Document Type: Letter

References (6)

1. Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). An Neurol 2003;54(Suppl 6):S32-45.
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