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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Two types of myoadenylate deaminase (MAD) deficiency have been described, primary or inherited, and secondary or acquired MAD deficiency. In this study, we investigated whether secondary MAD deficiency is indeed acquired or merely coincidental. We demonstrated the same underlying molecular defect, a
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