| Three years' experience with neonatal screening for Duchenne/Becker muscular dystrophy: gene analysis, gene expression, and phenotype prediction. | |
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MedLine Citation:
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PMID: 1867267 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Neonatal screening for Duchenne/Becker Muscular dystrophy (DMD/BMD) was begun as a pilot program on January 1, 1986. The aim of this program was to reduce the incidence of this X-linked recessive degenerative neuromuscular disease. The neonatal detection of a boy with DMD allows early identification of carriers and genetic counselling. This may avert the birth of other affected males born prior to clinical diagnosis of DMD in the propositus at about age 5 years. Between January 1, 1986, and December 31, 1988, we identified and characterized a cohort of 8 asymptomatic infant boys with grossly elevated levels of creatine kinase, an active primary dystrophic process of muscle and complete dystrophin deficiency. Five of 8 males have detectable DNA alterations involving the DMD/BMD locus. Based on current hypotheses, characterization of dystrophin expression of this cohort allows us to predict a DMD phenotype in all 8 boys. To date, no additional males with DMD have been born in these families. Prospective follow-up will allow us to test the validity of dystrophin testing in predicting the clinical course and impact of this program on reproductive decision making in these families. |
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Authors:
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C R Greenberg; H K Jacobs; W Halliday; K Wrogemann |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics Volume: 39 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1991 Apr |
Date Detail:
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Created Date: 1991-09-12 Completed Date: 1991-09-12 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 68-75 Citation Subset: IM |
Affiliation:
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Department of Human Genetics, University of Manitoba, Winnipeg, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cohort Studies Creatine Kinase / metabolism Decision Making Dystrophin / biosynthesis, genetics Female Follow-Up Studies Gene Expression Genetic Counseling Genetic Testing* Humans Incidence Infant, Newborn Male Muscular Dystrophies / diagnosis*, genetics Pedigree Phenotype Reproducibility of Results |
| Chemical | |
Reg. No./Substance:
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0/Dystrophin; EC 2.7.3.2/Creatine Kinase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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