Literature DB >> 85935

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

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

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 of age. This implies a much higher detection-rate (about 90%) in young carriers and suggests that discrimination between carriers and noncarriers may best be achieved by testing in childhood.

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Year:  1979        PMID: 85935     DOI: 10.1016/s0140-6736(79)91147-4

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  6 in total

1.  Useful probability considerations in genetics: the goat problem with tigers and other applications of Bayes' theorem.

Authors:  Konrad Oexle
Journal:  Eur J Pediatr       Date:  2006-02-07       Impact factor: 3.183

Review 2.  Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Authors:  H Moser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  Effect of exercise on serum creatine kinase in carriers of Duchenne muscular dystrophy.

Authors:  R F Gaines; S M Pueschel; E A Sassaman; J L Driscoll
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

4.  A genetic study of Duchenne muscular dystrophy in West Midlands.

Authors:  S Bundey
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318

5.  Prenatal deletion detection in a sporadic case of Duchenne muscular dystrophy without genotype information from the affected individual.

Authors:  F Peinemann; M Wagner; U Franke; M Kulle; J Reiss
Journal:  Eur J Pediatr       Date:  1991-02       Impact factor: 3.183

6.  Capping of lymphocytes in patients and carriers of Duchenne muscular dystrophy.

Authors:  A D Ho; S Stojakowits; B Reitter; W Fiehn; G Zipperle; W Hunstein; C Lipinski
Journal:  Klin Wochenschr       Date:  1980-04-01
  6 in total

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