Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease.

Wang, Yongxiang; Bai, Ming; Zhang, Piyi; Peng, Yu; Chen, Zixian; He, Zhiyu; Xu, Jin; Zhu, Youqi; Yan, Dongdong; Wang, Runqing; Zhang, Zheng

Wang, Yongxiang; Bai, Ming; Zhang, Piyi; Peng, Yu; Chen, Zixian; He, Zhiyu; Xu, Jin; Zhu, Youqi; Yan, Dongdong; Wang, Runqing; Zhang, Zheng.

Afiliação

Wang Y; Heart Center, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.
Bai M; Gansu Key Laboratory of Cardiovascular Diseases, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.
Zhang P; Gansu Provincial Clinical Research Center for Cardiovascular Diseases, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.
Peng Y; Heart Center, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.
Chen Z; Gansu Key Laboratory of Cardiovascular Diseases, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.
He Z; Gansu Provincial Clinical Research Center for Cardiovascular Diseases, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.
Xu J; Heart Center, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.
Zhu Y; The First Clinical Medical School, Lanzhou University, Lanzhou, Gansu, China.
Yan D; Heart Center, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.
Wang R; Gansu Key Laboratory of Cardiovascular Diseases, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.
Zhang Z; Gansu Provincial Clinical Research Center for Cardiovascular Diseases, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.

Mol Genet Genomic Med ; 11(9): e2216, 2023 09.

Article em En | MEDLINE | ID: mdl-37288668

Assuntos

Cardiomiopatia Hipertrófica; Doença de Depósito de Glicogênio Tipo IIb; Humanos; Feminino; Doença de Depósito de Glicogênio Tipo IIb/patologia; Códon de Iniciação; Mutação de Sentido Incorreto; Cardiomiopatia Hipertrófica/genética; Mutação; Proteína 2 de Membrana Associada ao Lisossomo/genética

Palavras-chave

Danon disease; X chromosome inactivation; autophagy; haploinsufficiency; initiation codon mutation; lysosome-associated membrane glycoprotein 2

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Doença de Depósito de Glicogênio Tipo IIb Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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