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Article

Identification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease.

ESC heart failure - 1 Aug 2023

Fu Di, Wang Shuai, Luo Yonghong, Wu Sha, Peng Daoquan

Abstract excerpt

AIMS: This study aimed to identify a novel splicing-altering LAMP2 variant associated with Danon disease. METHODS AND RESULTS: To identify the potential genetic mutation in a Chinese pedigree, whole-exome sequencing was conducted in the proband, and Sanger sequencing was performed on the proband's parents. To verify the impact of the splice-site variant, a minigene splicing assay was applied. The AlphaFold2...

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Identifiers

PMID: 37277924
DOI: 10.1002/ehf2.14417
PMCID: PMC10375081

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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