Condition: POLYGLUCOSAN BODY MYOPATHY 2
rs143137713 in
GYG1 gene and
POLYGLUCOSAN BODY MYOPATHY 2
PMID 25272951 2014 A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
PMID 27718144 2017 Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
PMID 20357282 2010 Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
PMID 29264399 2017 Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.
PMID 28453664 2017 Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.
PMID 29143313 2018 Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.