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Article

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B).

American journal of medical genetics. Part A - 1 Nov 2025

Donoghue Sarah, Kumble Smitha, Wasling Pontus, Alberg Lars, Linton-Dahlöf Pia, Yildiz Yilmaz, Ertuğrul İlker, Derks Terry, Koeberl Dwight, Lagrange Emmeline, Vergnaud Sabrina, Pezzani Lidia, Iascone Maria, Stark Zornitza, Bournazos Adam M, Cooper Sandra T, Kollberg Gittan

Abstract excerpt

Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular glycogen synthetase deficiency and has previously been identified as a...

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Identifiers

PMID: 40536305
DOI: 10.1002/ajmg.a.64149

Genes

GYS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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