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.