Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.

Kuipers, Demy J S; Tufekcioglu, Zeynep; Bilgiç, Basar; Olgiati, Simone; Dremmen, Marjolein H G; van IJcken, Wilfred F J; Breedveld, Guido J; Mancini, Grazia M S; Hanagasi, Hasmet A; Emre, Murat; Bonifati, Vincenzo

Kuipers, Demy J S; Tufekcioglu, Zeynep; Bilgiç, Basar; Olgiati, Simone; Dremmen, Marjolein H G; van IJcken, Wilfred F J; Breedveld, Guido J; Mancini, Grazia M S; Hanagasi, Hasmet A; Emre, Murat; Bonifati, Vincenzo.

Afiliação

Kuipers DJS; Erasmus MC, University Medical Center, Rotterdam, the Netherlands, Department of Clinical Genetics.
Tufekcioglu Z; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Bilgiç B; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Olgiati S; Erasmus MC, University Medical Center, Rotterdam, the Netherlands, Department of Clinical Genetics.
Dremmen MHG; Erasmus MC, University Medical Center, Rotterdam, the Netherlands, Department of Radiology.
van IJcken WFJ; Erasmus MC, University Medical Center, Rotterdam, the Netherlands, Center for Biomics.
Breedveld GJ; Erasmus MC, University Medical Center, Rotterdam, the Netherlands, Department of Clinical Genetics.
Mancini GMS; Erasmus MC, University Medical Center, Rotterdam, the Netherlands, Department of Clinical Genetics.
Hanagasi HA; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Emre M; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Bonifati V; Erasmus MC, University Medical Center, Rotterdam, the Netherlands, Department of Clinical Genetics. Electronic address: v.bonifati@erasmusmc.nl.

Parkinsonism Relat Disord ; 66: 228-231, 2019 09.

Article em En | MEDLINE | ID: mdl-31431325

Assuntos

Ataxia/genética; Conexinas/genética; Transtornos Parkinsonianos/genética; Substância Branca/patologia; Idade de Início; Idoso; Ataxia/patologia; Ataxia/fisiopatologia; Feminino; Humanos; Imageamento por Ressonância Magnética; Masculino; Pessoa de Meia-Idade; Mutação de Sentido Incorreto; Transtornos Parkinsonianos/patologia; Transtornos Parkinsonianos/fisiopatologia; Linhagem; Fenótipo; Irmãos; Turquia; Substância Branca/diagnóstico por imagem

Palavras-chave

GJC2; Late-onset; Mutation; Parkinsonism; Phenotype

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Conexinas / Transtornos Parkinsonianos / Substância Branca País/Região como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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