GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.
We previously reported four different mutations in the coding region of GTP cyclohydrolase I (GCH-I) gene in patients with hereditary progressive dystonia with marked diurnal fluctuation (HPD). We found two independent new mutations (leucine 79 proline and a deletion in exon 4) in patients with HPD. We also found four families of HPD without any mutations in the coding region of GCH-I gene.
Ichinose
H
H
Institute for Comprehensive Medical Science, School of Medicine, Fujita Health University, Aichi, Japan.
Ohye
T
T
Segawa
M
M
Nomura
Y
Y
Endo
K
K
Tanaka
H
H
Tsuji
S
S
Fujita
K
K
Nagatsu
T
T
D001483:Base Sequence; D004421:Dystonia / Q000235:genetics*; D005190:Family; D006136:GTP Cyclohydrolase / Q000235:genetics*; D005796:Genes / Q000235:genetics*; D006160:Guanosine Triphosphate / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation
D006160:Guanosine Triphosphate; D006136:GTP Cyclohydrolase