myopathy due to phosphoglycerate mutase deficiency (PGAMM deficiency)

Genetics

• associated with defects in muscle phosphoglycerate mutase (PGAMM)

Clinical manifestations

• exercise intolerance, cramps, & myoglobinuria

More general terms

• genetic disease of muscle (inherited myopathy)

Database

• OMIM: https://mirror.omim.org/entry/261670