Adenosine Monophosphate Deaminase Deficiency

Alias:
Myoadenylate Deaminase Deficiency
Muscle Amp Deaminase Deficiency
Amp Deaminase Deficiency
Exercise-Induced Myopathy
Mada Deficiency
Mad Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
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Disease Model
References Literature
Adenosine Monophosphate Deaminase Deficiency, also known as myoadenylate deaminase deficiency, is related to glycogen storage disease v and myopathy, and has symptoms including muscle weakness An important gene associated with Adenosine Monophosphate Deaminase Deficiency is AMPD1 (Adenosine Monophosphate Deaminase 1), and among its related pathways/superpathways are Metabolism of nucleotides and ATP/ITP metabolism. Affiliated tissues include skeletal muscle and t cells, and related phenotypes are myalgia and limb muscle weakness
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Basic Information

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Prevalence
Related Gene
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Reference
MALACARDS
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Unknown
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2
14
4

Medical Symptom

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Gene & Mutation

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References Literature

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