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

BACKGROUND: Danon disease is characterized by the failure of lysosomal biogenesis, maturation, and function due to a deficiency of lysosomal membrane structural protein (LAMP2). METHODS: The current report describes a female patient with a sudden syncope and hypertrophic cardiomyopathy phenotype. We...

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Detalles Bibliográficos
Autores principales: Wang, Yongxiang, Bai, Ming, Zhang, Piyi, Peng, Yu, Chen, Zixian, He, Zhiyu, Xu, Jin, Zhu, Youqi, Yan, Dongdong, Wang, Runqing, Zhang, Zheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496070/
https://www.ncbi.nlm.nih.gov/pubmed/37288668
http://dx.doi.org/10.1002/mgg3.2216

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