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Electromyography in myoadenylate deaminase deficiency (MADD)

✍ Scribed by P. Baum; R. Schober; C. Müller; A. Wagner


Book ID
118434291
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
46 KB
Volume
118
Category
Article
ISSN
1388-2457

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A 31-year-old woman developed an acute, potentially fatal rhabdomyolysis of undetermined origin. Muscle biopsy revealed selective lysis involving exclusively type 2a fibers. Myoadenylate-deaminase (MAD) deficiency was proven by a negative histochemical reaction as well as by an enzymatic biochemical