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

doi:10.1016/S0140-6736(79)91147-4

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 journal › Article › peer-review

32 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 language	English
Pages (from-to)	692-694
Number of pages	3
Journal	The Lancet
Volume	313
Issue number	8118
DOIs	https://doi.org/10.1016/S0140-6736(79)91147-4
Publication status	Published - 31 Mar 1979
Externally published	Yes

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title = "Carrier detection in Duchenne muscular dystrophy: Assessment of the effect of age on detection-rate with serum-creatine-kinase-activity",

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.",

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AU - Gardner-Medwin, D.

AU - Walton, J. N.

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AB - 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.

UR - https://www.scopus.com/pages/publications/0018364663

U2 - 10.1016/S0140-6736(79)91147-4

DO - 10.1016/S0140-6736(79)91147-4

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JO - The Lancet

JF - The Lancet

IS - 8118

ER -

Carrier detection in Duchenne muscular dystrophy: Assessment of the effect of age on detection-rate with serum-creatine-kinase-activity

Abstract

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