Carrier detection in Duchenne muscular dystrophy

Assessment of the effect of age on detection-rate with serum-creatine-kinase-activity

G. A. Nicholson*, R. J T Pennington, D. Gardner-Medwin, J. N. Walton

*Corresponding author for this work

Research output: Contribution to journalArticle

27 Citations (Scopus)

Abstract

In 40 known carriers of the gene for Duchenne muscular dystrophy (mean age 38 years) the detection-rate with a standard assay of serum-creatine-kinase was 53%. In 52 daughters of known carriers (mean age 16 years) the detection-rate was 45% after correction for age. This implies a much higher detection-rate (about 90%) in young carriers and suggests that discrimination between carriers and non-carriers may best be achieved by testing in childhood.

Original languageEnglish
Pages (from-to)692-694
Number of pages3
JournalThe Lancet
Volume313
Issue number8118
DOIs
Publication statusPublished - 31 Mar 1979
Externally publishedYes

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