Literature DB >> 3655748

[Systematic neonatal detection of Duchenne's muscular dystrophy. Results after 10 years' of experience in Lyons (France)].

H Plauchu1, M P Cordier, H N Carrier, C Dellamonica, C Dorche, P Guibaud, B Lauras, J Cotte, J M Robert.   

Abstract

Neonatal screening of Duchenne Muscular Dystrophy using serum CK level measurement has been performed for 10 years in a part of the Rhône-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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Year:  1987        PMID: 3655748

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  3 in total

1.  Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).

Authors:  Stuart J Moat; Donald M Bradley; Rachel Salmon; Angus Clarke; Louise Hartley
Journal:  Eur J Hum Genet       Date:  2013-01-23       Impact factor: 4.246

2.  Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy.

Authors:  E Hildes; H K Jacobs; A Cameron; S S Seshia; F Booth; J A Evans; K Wrogemann; C R Greenberg
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

3.  Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study.

Authors:  Alissa Cyrus; Natalie Street; Sharon Quary; Julie Kable; Aileen Kenneson; Paul Fernhoff
Journal:  PLoS Curr       Date:  2012-05-02
  3 in total

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