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autosomal dominant myoglobinuria

Disease Summary
Associated Targets ()

Mondo Description Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.
Mondo Term and Equivalent IDs
MONDO:0008046:  autosomal dominant myoglobinuria
MESH:C563546: 
Orphanet:99846: 
SCTID:725903003: 
UMLS:C1834567: