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Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia.
Chen, Pin-Shiuan; Wu, Meng-Chen; Tai, Chun-Hwei; Chang, Yung-Yee; Lan, Min-Yu; Chen, Ying-Fa; Lin, Han-I; Lee, Ni-Chung; Lin, Chin-Hsien.
Afiliação
  • Chen PS; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
  • Wu MC; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Department of Geriatrics and Gerontology, National Taiwan University Hospital, Taipei, Taiwan.
  • Tai CH; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
  • Chang YY; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
  • Lan MY; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
  • Chen YF; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
  • Lin HI; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
  • Lee NC; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
  • Lin CH; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: chlin@ntu.edu.tw.
Parkinsonism Relat Disord ; 107: 105294, 2023 02.
Article em En | MEDLINE | ID: mdl-36657279
ABSTRACT
The inosine monophosphate dehydrogenase gene (IMPDH2) was recently reported as a novel gene associated with autosomal dominantly inherited dystonia. We investigated 245 Taiwanese patients with molecularly unassigned isolated or combined dystonia without features of neurodevelopmental disorders and found none had pathogenic variants. Our findings suggest that IMPDH2 may not play a major role in dystonia.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distonia Limite: Humans Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Taiwan
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distonia Limite: Humans Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Taiwan