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Article

Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing.

The American journal of cardiology - 15 Sept 2016

Fu Lijun, Luo Sushan, Cai Shuang, Hong Wenjing, Guo Ying, Wu Jinjin, Liu Tingliang, Zhao Chongbo, Li Fen, Huang Huimin, Huang Meirong, Wang Jian

Abstract excerpt

Danon disease is an X-linked disorder with the clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Early diagnosis of this disease remains a challenge, especially in the pediatric population. In this study, we developed a targeted panel-based next generation sequencing pipeline to identify mutations by sequencing of selected candidate genes in 136 pediatric patients with either...

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Source

Identifiers

PMID: 27460667
DOI: 10.1016/j.amjcard.2016.06.037

Genes

LAMP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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