SGCA, sarcoglycan alpha, 6442

N. diseases: 111; N. variants: 57
Disease: Absence of muscle ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1456418
Disease: Absence of muscle
Absence of muscle 		0.010 Biomarker disease BEFREE The sarcoglycan genes should be added to the differential diagnosis for cases that present with rhabdomyolysis, exercise intolerance, and hyperCKemia, even in the absence of muscle weakness or normal α-sarcoglycan immunohistochemistry. 26453141 2015