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.