Systematic neonatal detection of Duchenne's muscular dystrophy. Results after 10 years' of experience in Lyons (France) |
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| Authors: | H Plauchu M P Cordier H N Carrier C Dellamonica C Dorche P Guibaud B Lauras J Cotte J M Robert |
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| Institution: | Service de Génétique, H?tel-Dieu, Lyon. |
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| Abstract: | Neonatal screening of Duchenne Muscular Dystrophy using serum CK level measurement has been performed for 10 years in a part of the Rh?ne-Alpes area (40,000 newborns per year). This test avoids consecutive cases in an affected family by mean of an early genetic counselling. So, 10 potential DMD boys have been avoided (i.e. one out of five of the D.M.D., as a whole which would be born during this same ten year study). Details on familial structures and efficiency of genetic counselling are given, and this efficiency will be increased by the DNA study of the concerned families. |
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