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Article

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.

Neuromuscular disorders : NMD - 1 Dec 2019

Hedberg-Oldfors Carola, De Ridder Willem, Kalev Ognian, Böck Klaus, Visuttijai Kittichate, Caravias Georg, Töpf Ana, Straub Volker, Baets Jonathan, Oldfors Anders

Abstract excerpt

Glycogen storage disease XV is caused by variants in the glycogenin-1 gene, GYG1, and presents as a predominant skeletal myopathy or cardiomyopathy. We describe two patients with late-onset myopathy and biallelic GYG1 variants. In patient 1, the novel c.144-2A>G splice acceptor variant and the novel frameshift variant c.631delG (p.Val211Cysfs*30) were identified, and in patient 2, the previously described...

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Identifiers

PMID: 31791869
DOI: 10.1016/j.nmd.2019.10.002

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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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