Genetics: Of Muscles & Enzymes

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Suspicious Uncles. For a woman whose fertilized ovum has suffered a one-time mutation and who is not a carrier, the creatine kinase test is no predictor. Her level is that of a normal woman. But in many women who are carriers, the level can go as high as 40 units per liter. A woman who has had one dystrophic child or relative should have her creatine kinase level measured by means of a blood test, said Dr. Emery. Any woman who knows that a brother or an uncle or a great-uncle has died of the disease should likewise get herself tested. If the creatine kinase level is high in such a woman, she should be advised to have no more children. For a double check in suspected carrier cases, Dr. Emery recommended a more elaborate test for measuring another enzyme, LDH-5, and checking the cells in a pinch of tissue taken from the calf muscle. If the LDH-5 level and the cells are abnormal, the pinch should clinch it.

* Named for French Neurologist Guillaume Benjamin Amand Duchenne, who first described the muscular disorders in 1858.

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