PMID: 616016May 1, 1977Paper

Prevention of duchenne's muscular dystrophy: methodological problems in the detection of carriers (author's transl)

Rivista di patologia nervosa e mentale
G ScarlatoG Meola

Abstract

In the last five years 48 possible carries and 13 known carriers of the gene for the Duchenne type of muscular dystrophy were studied in the Neurological Institute of the University of Milan. To achieve the most accurate detection, the following tests are recommended: a) the serum creatine kinase (CPK) estimation; b) quantitative EMB test on 3 muscles (deltoid, biceps and vastus medialis), in case of normal CPK level; c) histological and histochemical studies, only if tests a) and b) are uniformative.

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