Article
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.
Molecular genetics & genomic medicine - 1 Sept 2023
Wang Yongxiang, Bai Ming, Zhang Piyi, Peng Yu, Chen Zixian, He Zhiyu, Xu Jin, Zhu Youqi, Yan Dongdong, Wang Runqing, Zhang Zheng
Abstract excerpt
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 identified the pathogenic mutations in patients by whole-exon sequencing, followed by a series of molecular biology...
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