Literature DB >> 7325161

A method for the detection of carriers of Duchenne muscular dystrophy--a preliminary report.

G Monckton, H Marusyk, E Pehowich.   

Abstract

This report of a method to detect carriers of Duchenne muscular dystrophy describes a technique of tissue autoradiography that identifies increased uptake of [(3)H]leucine into some individual muscle fibers in muscle biopsies. Three obligate and seven of 11 sisters of affected boys are identified as carriers in this series. This method of identification may be of value in identifying those carriers undetected by other means, but remains to be further evaluated.

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Year:  1981        PMID： 7325161      PMCID： PMC1685149     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  18 in total

1.  MYOPATHIC CHANGES IN MUSCULAR DYSTROPHY CARRIERS.

Authors:  V DUBOWITZ
Journal:  Proc R Soc Med       Date:  1963-09

2.  [Study of serum creatine kinase in myopathic patients and their families].

Authors:  J C DREYFUS; G SCHAPIRA; J DEMOS
Journal:  Rev Fr Etud Clin Biol       Date:  1960-04

3.  A new approach for carrier detection in Duchenne muscular dystrophy. Protein synthesis of muscle polyribosomes in vitro.

Authors:  V Ionasescu; H Zellweger; T W Conway
Journal:  Neurology       Date:  1971-07       Impact factor: 9.910

4.  Carrier detection in X-linked Duchenne type muscular dystrophy. A pluridimensional investigation.

Authors:  H Radu; S Migea; Z Török; L Bordeianu; A Radu
Journal:  J Neurol Sci       Date:  1968 Mar-Apr       Impact factor: 3.181

5.  Proceedings: Red cell cytochemistry in glucose-6-phosphate dehydrogenase deficiency.

Authors:  P A Gordon; J Stuart
Journal:  Br J Haematol       Date:  1974-06       Impact factor: 6.998

6.  Carrier detection in Duchenne muscular dystrophy. A comparative study of electron microscopy, light microscopy and serum enzymes.

Authors:  S Roy; V Dubowitz
Journal:  J Neurol Sci       Date:  1970-07       Impact factor: 3.181

7.  [Shorter autoradiographic exposition of electron microscopic preparations by scintillators].

Authors:  H A Fischer; H Korr; H Thiele; G Werner
Journal:  Naturwissenschaften       Date:  1971-02

8.  Normal mammalian muscle differentiation and gene control of isocitrate dehydrogenase synthesis.

Authors:  B Mintz; W W Baker
Journal:  Proc Natl Acad Sci U S A       Date:  1967-08       Impact factor: 11.205

9.  Serum creatine kinase and pyruvate kinase in Duchenne muscular dystrophy carrier detection.

Authors:  M E Percy; L S Chang; E G Murphy; I Oss; C Verellen-Dumoulin; M W Thompson
Journal:  Muscle Nerve       Date:  1979 Sep-Oct       Impact factor: 3.217

10.  The incorporation of 3H (G) L-leucine into single muscle fibers in Duchenne dystrophy and Charcot-Marie Tooth disease.

Authors:  G Monckton; H Marusyk
Journal:  Can J Neurol Sci       Date:  1979-02       Impact factor: 2.104
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  2 in total

Review 1.  Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

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

2.  Results of blind testing a method to detect carriers of the Duchenne muscular dystrophy gene.

Authors:  G Monckton; M Zatz; C S Mion; H Marusyk
Journal:  Am J Hum Genet       Date:  1984-07       Impact factor: 11.025
  2 in total

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