AMPD1, adenosine monophosphate deaminase 1, 270

N. diseases: 93; N. variants: 3
Disease: Myopathy ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.310 GeneticVariation group BEFREE In this report we present the first case with a detectable defect of the AMPD1 gene in a Japanese patient with myopathy. 11102975 2000