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Details of PGAM2 gene in Homo sapiens
Phenotypes
Abnormality of circulating enzyme level, Abnormality of circulating protein level, Abnormality of metabolism/homeostasis, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of renal physiology, Abnormality of the genitourinary system, Abnormality of the musculature, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, All, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Exercise-induced muscle cramps, Exercise-induced myalgia, Functional motor problems., Mode of inheritance, Muscle cramps, Myalgia, Myoglobinuria, Myopathy, Phenotypic abnormality, Renal insufficiency, Rhabdomyolysis.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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