Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.

Gorman, K M; Meyer, E; Kurian, M A

Gorman, K M; Meyer, E; Kurian, M A.

Afiliação

Gorman KM; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital, London, UK.
Meyer E; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital, London, UK. Electronic address: manju.kurian@ucl.ac.uk.

Eur J Paediatr Neurol ; 22(2): 245-256, 2018 Mar.

Article em En | MEDLINE | ID: mdl-29289525

Assuntos

Distúrbios Distônicos/genética; Histona-Lisina N-Metiltransferase/genética; Criança; Feminino; Humanos; Mutação; Fenótipo

Palavras-chave

Dystonia; Genetic and inherited disorders; KTM2B; Microdeletions

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Histona-Lisina N-Metiltransferase / Distúrbios Distônicos Limite: Child / Female / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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