has material basis in germline mutation in AMPD1 myopathy adenosine monophosphate deaminase deficiency myopathy due to myoadenylate deaminase deficiency https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency https://www.malacards.org/card/myopathy_due_to_myoadenylate_deaminase_deficiency AMP deaminase 1 deficiency AMPD1 deficiency OMIM:615511 GARD:0015248 AMP deaminase deficiency adenosine monophosphate deaminase-1 deficiency, myopathy due to MONDO:0014220 MMDD UMLS:C3714933 myopathy due to myoadenylate deaminase deficiency adenosine monophosphate deaminase deficiency NCIT:C157504 MEDGEN:811508 myoadenylate deaminase deficiency, myopathy due to adenosine monophosphate deaminase 1 deficiency myoadenylate deaminase deficiency hereditary skeletal muscle disorder