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myopathy due to phosphoglycerate mutase deficiency (PGAMM deficiency)
Genetics:
- associated with defects in muscle phosphoglycerate mutase (PGAMM)
Clinical manifestations:
- exercise intolerance, cramps, & myoglobinuria
General
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM 261670
References
OMIM :accession 261670