Clinical and genetic features of patients with facial-sparing facioscapulohumeral muscular dystrophy.

He, J-J; Lin, X-D; Lin, F; Xu, G-R; Xu, L-Q; Hu, W; Wang, D-N; Lin, H-X; Lin, M-T; Wang, N; Wang, Z-Q

He, J-J; Lin, X-D; Lin, F; Xu, G-R; Xu, L-Q; Hu, W; Wang, D-N; Lin, H-X; Lin, M-T; Wang, N; Wang, Z-Q.

Afiliação

He JJ; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Lin XD; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Lin F; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Xu GR; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Xu LQ; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Hu W; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Wang DN; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Lin HX; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Lin MT; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Wang N; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Wang ZQ; Fujian Key Laboratory of Molecular Neurology, Fuzhou, China.

Eur J Neurol ; 25(2): 356-364, 2018 02.

Article em En | MEDLINE | ID: mdl-29112784

Assuntos

Cromossomos Humanos Par 4/genética; Distrofia Muscular Facioescapuloumeral; Adulto; Estudos de Coortes; Metilação de DNA; Feminino; Haplótipos; Humanos; Masculino; Pessoa de Meia-Idade; Distrofia Muscular Facioescapuloumeral/genética; Distrofia Muscular Facioescapuloumeral/metabolismo; Distrofia Muscular Facioescapuloumeral/patologia; Distrofia Muscular Facioescapuloumeral/fisiopatologia; Adulto Jovem

Palavras-chave

4qA/4qB determination; D4Z4 repeats; facial-sparing scapular myopathy; hypomethylation; molecular analysis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 4 / Distrofia Muscular Facioescapuloumeral Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China

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