AMPD1, adenosine monophosphate deaminase 1, 270

N. diseases: 93; N. variants: 3
Disease: Muscle Weakness ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.410 GeneticVariation phenotype BEFREE Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient. 10996775 2000