Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X

Phosphoglycerate mutase (PGAM) deficiency is associated with a rare glycogen storage disease (glycogenosis type X) in humans caused by pathogenic variants in the PGAM2 gene. Several genes causing autosomal forms of glycogen storage disease (GSD) have been identified, involved in various forms of neu...

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Veröffentlicht in:	European journal of medical genetics 2021-09, Vol.64 (9), p.104283-104283, Article 104283
Hauptverfasser:	Nayab, Anam, Alam, Qamre, Alzahrani, Othman R., Khan, Ranjha, Sarfaraz, Sara, Albaz, Alrayan Abass, Rafeeq, Misbahuddin M., Sain, Ziaullah M., Waqas, Ahmed, Umair, Muhammad
Format:	Artikel
Sprache:	eng
Schlagworte:	Frameshift variant Glycogen storage disease type X PGAM2 gene Phosphoglycerate mutase Whole exome sequencing
Online-Zugang:	Volltext
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