Condition: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY


rs121912682 in AMPD1 gene and MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY PMID 11102975 2000 First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.