Myoadenylate deaminase deficiency: absen
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Rudolf Mercelis; Jean-Jacques Martin; Thierry Barsy; Georges Berghe
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Article
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1987
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Springer
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English
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A histochemical assay was routinely performed of myoadenylate deaminase (MAD) in muscle biopsy specimens. MAD was absent in 13 cases, i.e. 2.9% of the specimens. In 10 cases the deficiency was confirmed biochemically. The diagnoses in the 13 patients were: polyneuropathy (n = 5), infantile spinal mu