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Myoadenylate deaminase deficiency

Disease MyiasisMyocardial biopsy

Myoadenylate Deaminase Deficiency:…
By Teijeira S, San Millán B, Fernández JM, Rivas E, Viéitez I, Miranda S, González F, Navarro C ...

 


Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. Mol Genet Metab. 2005 Sep-Oct;86(1-2):250-6. Epub 2005 Jul 22. PubMed citation
OMIM ...

Scriver's Online Metabolic and Molecular Bases of Inherited Disease (OMMBID): Myoadenylate Deaminase Deficiency
What other names do people use for adenosine monophosphate deaminase deficiency?

See also: Symptom, Physical activity, Muscle weakness, Deficiency, Weakness

Disease MyiasisMyocardial biopsy

 
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