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Article

Novel GLA variant in Fabry cardiomyopathy: evidence of pathogenicity and amenability to migalastat.

Open heart - 20 May 2026

Fan Yingao, Cui Chenyu, Zhang Xue, Hu Chao, Xu Andi, Wang Lian, Li Hui, Zhu Xiaolei, Niu Fengnan

Abstract excerpt

BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene and commonly involves the heart. This study aimed to investigate the pathogenicity of a novel missense variant and its amenability to migalastat. METHODS: A retrospective analysis was conducted on 28 patients with FD collected over the past 10 years. Pathogenicity was assessed within a family...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42161426
DOI: 10.1136/openhrt-2026-004016
PMCID: PMC13202032

Genes

GLA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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