Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family.

Zhu, Feng; Zhang, Fengxiao; Hu, Lizhi; Liu, Haowen; Li, Yahua

Zhu, Feng; Zhang, Fengxiao; Hu, Lizhi; Liu, Haowen; Li, Yahua.

Afiliação

Zhu F; Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Zhang F; Clinic Center of Human Gene Research, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Hu L; Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Liu H; Clinic Center of Human Gene Research, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Li Y; Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Front Genet ; 12: 672906, 2021.

Article em En | MEDLINE | ID: mdl-34276779

Palavras-chave

Miyoshi muscular dystrophy; compound heterozygous mutations; deep intron mutation; dysferlin; dystonia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China País de publicação: Suíça

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