Literature DB >> 3542803

Detection of Duchenne muscular dystrophy carriers: quantitative echography and creatine kinasemia.

G Schapira, P Laugier, J Rochette, G Berger, P Katz, J Perrin.   

Abstract

Data obtained from simultaneous determinations of serum creatine-kinase levels and estimation of ultrasound attenuation values in muscles greatly improved the detection of obligate carriers of Duchenne muscular dystrophy than when only one of these methods was employed alone. Eleven carriers out of 19 had a high creatine-kinasemia level and nine carriers out of 19 had a high (abnormal) attenuation value. Because of the limited overlapping between the two parameters studied, we were able to recognize 17 obligate carriers out of the 19. This indicates that the parameters studied concern different features of the disease, and the practical and theoretical considerations are discussed. The techniques are discussed together with molecular genetic investigations.

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Year:  1987        PMID: 3542803     DOI: 10.1007/BF00273832

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  31 in total

1.  Recommended method for the determination of creatine kinase in blood.

Authors: 
Journal:  Scand J Clin Lab Invest       Date:  1976-12       Impact factor: 1.713

2.  Possible mechanisms of X chromosome inactivation.

Authors:  M F Lyon
Journal:  Nat New Biol       Date:  1971-08-25

3.  The value of serum enzyme determinations in the identification of dystrophic carriers.

Authors:  J C Dreyfus; F Schapira; J Demos; R Rosa; G Schapira
Journal:  Ann N Y Acad Sci       Date:  1966-09-09       Impact factor: 5.691

4.  Decrease in the rate of protein synthesis by polysomes from cultured fibroblasts of patients and carriers with Duchenne muscular dystrophy.

Authors:  M Boulé; M Vanasse; L Brakier-Gingras
Journal:  Can J Neurol Sci       Date:  1979-08       Impact factor: 2.104

5.  Serum LDH-5 in carriers of Duchenne muscular dystrophy.

Authors:  D Burt; A E Emery
Journal:  Neurology       Date:  1979-02       Impact factor: 9.910

6.  A spin label study of the erythrocyte membrane in mothers and sisters of patients suffering from Duchenne muscular dystrophy.

Authors:  F Leterrier; E Lamas; D Daveloose; J Viret; J Rochette; G Schapira
Journal:  Clin Chim Acta       Date:  1984-11-15       Impact factor: 3.786

7.  Carrier detection in Duchenne muscular dystrophy using computed tomography.

Authors:  L M Stern; D J Caudrey; M S Clark; L V Perrett; D W Boldt
Journal:  Clin Genet       Date:  1985-04       Impact factor: 4.438

8.  Erythrocyte abnormality in human myopathy.

Authors:  H D Brown; S K Chattopadhyay; A B Patel
Journal:  Science       Date:  1967-09-29       Impact factor: 47.728

9.  Myoglobinaemia in Duchenne muscular dystrophy patients and carriers: A new adjunct to carrier detection.

Authors:  B T Adornato; L J Kagen; W K Engel
Journal:  Lancet       Date:  1978-09-02       Impact factor: 79.321

10.  Variation of serum creatine kinase levels with age in normal females: implications for genetic counselling in Duchenne muscular dystrophy.

Authors:  R J Lane; A D Roses
Journal:  Clin Chim Acta       Date:  1981-06-02       Impact factor: 3.786

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  1 in total

1.  Diagnostic ultrasound estimates of muscle mass and muscle quality discriminate between women with and without sarcopenia.

Authors:  Catheeja Ismail; Johannah Zabal; Haniel J Hernandez; Paula Woletz; Heather Manning; Carla Teixeira; Loretta DiPietro; Marc R Blackman; Michael O Harris-Love
Journal:  Front Physiol       Date:  2015-10-29       Impact factor: 4.566

  1 in total

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