Article
Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.
Clinical neuropathology - 1 Jan 2000
Teijeira S, San Millán B, Fernández J M, Rivas E, Viéitez I, Miranda S, González F, Navarro C
Abstract excerpt
Myoadenylate deaminase deficiency (MADD) is the most common metabolic muscle disorder. Here we report the largest study to date of MADD in Spanish patients, including clinical, histological, and molecular data. Most of the patients presented with moderate clinical symptoms of exercise intolerance, including myalgia, fatigability and cramps. In 70% of the patients, serum creatine kinase (CK) was elevated. Muscle...
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