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Myopathy due to myoadenylate deaminase deficiency

MONDO:0014220

Also known as: myopathy due to myoadenylate deaminase deficiency, AMP deaminase 1 deficiency, AMP deaminase deficiency, AMPD1 deficiency, MMDD, adenosine monophosphate deaminase 1 deficiency, adenosine monophosphate deaminase deficiency, adenosine monophosphate deaminase-1 deficiency, myopathy due to

3 clinical trials for this condition and its sub-types, 1 tagged with Myopathy due to myoadenylate deaminase deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Myopathy (990) ↑ Hereditary skeletal muscle disorder (406)

Including sub-types (3) Tagged with Myopathy due to myoadenylate deaminase deficiency (1)

Trials to join now! 1

Scientists launch major study to unravel mysterious metabolism disorders

Knowledge-focused Recruiting now

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Aug 21, 2026 00:00 UTC