Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.

Dai, Yi; Liang, Shengran; Dong, Xue; Zhao, Yanhuan; Ren, Haitao; Guan, Yuzhou; Yin, Haifang; Li, Chen; Chen, Lin; Cui, Liying; Banerjee, Santasree

Dai, Yi; Liang, Shengran; Dong, Xue; Zhao, Yanhuan; Ren, Haitao; Guan, Yuzhou; Yin, Haifang; Li, Chen; Chen, Lin; Cui, Liying; Banerjee, Santasree.

Afiliação

Dai Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Liang S; School of Life Science and Biopharmaceuticals, Guangdong Pharmaceutical University, Guangzhou, China.
Dong X; Department of Cell Biology, Tianjin Medical University, Tianjin, China.
Zhao Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Ren H; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Guan Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Yin H; Department of Cell Biology, Tianjin Medical University, Tianjin, China.
Li C; Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China.
Chen L; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Cui L; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Banerjee S; Neurosciences Center, Chinese Academy of Medical Sciences, Beijing, China.

J Cell Mol Med ; 23(2): 811-818, 2019 02.

Article em En | MEDLINE | ID: mdl-30450679

Assuntos

Distroglicanas/genética; Músculo Esquelético/metabolismo; Distrofia Muscular do Cíngulo dos Membros/genética; Mutação de Sentido Incorreto; Adulto; Idade de Início; Sequência de Bases; China; Disferlina/genética; Disferlina/metabolismo; Distroglicanas/deficiência; Distrofina/genética; Distrofina/metabolismo; Éxons; Feminino; Expressão Gênica; Glicosilação; Humanos; Masculino; Pessoa de Meia-Idade; Músculo Esquelético/patologia; Distrofia Muscular do Cíngulo dos Membros/diagnóstico; Distrofia Muscular do Cíngulo dos Membros/etnologia; Distrofia Muscular do Cíngulo dos Membros/patologia; Linhagem; Sarcoglicanas/genética; Sarcoglicanas/metabolismo; Sequenciamento do Exoma

Palavras-chave

DAG1 gene; MDDGC9; muscular dystrophy-dystroglycanopathy; whole exome sequencing; α-dystroglycan

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Mutação de Sentido Incorreto / Distrofia Muscular do Cíngulo dos Membros / Distroglicanas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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