Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference11 articles.
1. Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase;Tsujino;J Biol Chem,1989
2. Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency;Oh;Muscle Nerve,2006
3. Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy;Dimauro;Science,1981
4. Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene;Hadjigeorgiou;Neuromuscul Disord,1999
5. Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama;Salameh;Muscle Nerve,2013
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1. Phosphoglycerate mutase regulates Treg differentiation through control of serine synthesis and one-carbon metabolism;2024-06-28
2. Glycogen storage diseases;Nature Reviews Disease Primers;2023-09-07
3. Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X;European Journal of Medical Genetics;2021-09
4. Novel heterozygous mutations in the PGAM2 gene with negative exercise testing;Molecular Genetics and Metabolism Reports;2018-12
5. Glycogen metabolism and glycogen storage disorders;Annals of Translational Medicine;2018-12
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