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PEDIATRICS
Article . 1977 . Peer-reviewed
Data sources: Crossref
PEDIATRICS
Other literature type . 1977
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Screening for Duchenne muscular dystrophy

Authors: A D, Roses; G A, Nicholson; C R, Roe;

Screening for Duchenne muscular dystrophy

Abstract

Recently, it has been suggested that all newborn male infants be screened for Duchenne muscular dystrophy (DMD) by measuring creatine phosphokinase (CPK) levels.1,2 One of the main arguments for this approach is that mothers of affected infants who have no known family history of DMD can be counseled. Current genetic counseling advice, however, is based on a theory that many DMD patients represent new mutations.3-5 Zellweger and Antonik have stated the theory when they say, "DMD is inherited as an X-linked recessive trait in two-thirds of the cases, and is due to new mutations in the rest of the cases.l

Keywords

Male, Infant, Newborn, Humans, Female, Creatine Kinase, Metabolism, Inborn Errors, Muscular Dystrophies, Pedigree

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
6
Average
Average
Average
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