Abstract
In 1978 adenosine monophosphate (AMP) deaminase deficiency in skeletal muscle (“myoadenylate deaminase deficiency”) was described as a new entity by Fishbein et al. Their publication, “Myoadenylate deaminase deficiency: a new disease of muscle,” reported five patients with muscular weakness or cramping after exercise. Muscle biopsies of all five patients showed less than 5% of normal AMP deaminase activity, levels of other enzymes were normal. Routine histology of skeletal muscle was also normal. The symptoms of these patients were attributed to the lack of AMP deaminase activity.
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Zöllner, N., Wagner, D.R., Gross, M. (1993). Clinical Aspects and Biochemical Basis of AMP Deaminase Deficiency: A Clinician’s Point of View. In: Gresser, U. (eds) Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-84962-6_16
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DOI: https://doi.org/10.1007/978-3-642-84962-6_16
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