Diphenoloxidases in various forms of myopathy which are transmitted by different genetic mechanisms.

Autor: Demos, Jean, Tuil, David, Katz, Pierre
Zdroj: Human Genetics; 1982, Vol. 61 Issue 3, p185-189, 5p
Abstrakt: In a previous article (Demos et al. 1981), we reported a significant and specific reduction of the activity index (AI) of the diphenoloxidases (DPox) in patients and heterozygotes with progressive Duchenne muscular dystrophy (DMD), which is transmitted genetically by female subjects by a sex-linked recessive mechanism (SLR). This same anomaly was detected in patients suffering from other types of dystrophy: Becker, limbgirdle, fascio-scapulo-humeral, and in heterozygotes, of either sex in diseases transmitted by an obviously recessive autosomic mechanism. These anomalies were detected using blood spots collected on absorbent paper and stored at 4°C for differnt periods. They were of the same type as had previously been detected using blood platelets (Demos 1973). [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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