Condition: Glycogen storage disease type X


rs104894030 in DBNL;PGAM2 gene and Glycogen storage disease type X PMID 8447317 1993 The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.

PMID 10545043 1999 Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.

rs10250779 in PGAM2;DBNL gene and Glycogen storage disease type X PMID 27612597 2016 Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.

PMID 8447317 1993 The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.

PMID 10545043 1999 Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.