Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare metabolic myopathy characterized by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria. Disease data Classification Disease Synonyms GSD due to phosphoglycerate mutase deficiency Glikogenoza z powodu niedoboru mutazy fosfoglicerynianu GSD typu 10 GSD z powodu niedoboru mutazy fosfoglicerynianu Miopatia z powodu niedoboru mutazy fosfoglicerynianu Niedobór mięśniowej mutazy fosfoglicerynianu GSD type 10 Glycogenosis due to phosphoglycerate mutase deficiency Muscle phosphoglycerate mutase deficiency Myopathy due to phosphoglycerate mutase deficiency ORPHA code 97234 OMIM code 261670 ICD10 code E74.0 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl