Myopathie durch Phosphoglycerat-Mutase-Mangel
GLYCOGEN STORAGE DISEASE X
OMIM: 261670
Synonyme
- muskulärer Phosphoglycerat-Mutase-Mangel
- GSD X
- DEFICIENCY OF MUSCLE PHOSPHOGLYCERATE MUTASE
- MYOPATHY DUE TO PHOSPHOGLYCERATE MUTASE DEFICIENCY
- PGAMM DEFICIENCY
Genorte
- PGAM2(OMIM 612931)