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Article

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.

Gene - 15 Apr 2012

Al-Thihli Khalid, Ebrahim Hatim, Hughes Derralynn A, Patel Millan, Tipple Marion, Salvarinova Ramona, Gardiner Jane, Vallance Hilary, Waters Paula J

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is genetically heterogeneous, and largely caused by mutations in genes encoding sarcomere proteins. However, GLA mutations causing Fabry disease, an X-linked lysosomal storage disorder, may also present with isolated HCM. As HCM genetic testing panels are increas...

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Identifiers

PMID: 22336178
DOI: 10.1016/j.gene.2012.01.056

Genes

GLA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22336178-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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