Literature DB >> 2684033

Dystrophin analysis in the diagnosis of muscular dystrophy.

A M Norman1, H E Hughes, D Gardner-Medwin, L V Nicholson.   

Abstract

We present a family in which the differential diagnosis between X linked Duchenne muscular dystrophy and autosomal recessive Duchenne-like muscular dystrophy was resolved in favour of the latter by analysis of dystrophin, which is the protein product of the Duchenne muscular dystrophy locus.

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Year:  1989        PMID： 2684033      PMCID： PMC1792773          DOI： 10.1136/adc.64.10.1501

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  12 in total

1.  A two-step procedure for efficient electrotransfer of both high-molecular-weight (greater than 400,000) and low-molecular-weight (less than 20,000) proteins.

Authors:  T Otter; S M King; G B Witman
Journal:  Anal Biochem       Date:  1987-05-01       Impact factor: 3.365

2.  The manifesting carrier in Duchenne muscular dystrophy.

Authors:  H Moser; A E Emery
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

3.  Cleavage of structural proteins during the assembly of the head of bacteriophage T4.

Authors:  U K Laemmli
Journal:  Nature       Date:  1970-08-15       Impact factor: 49.962

4.  Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia.

Authors:  M Ben Hamida; M Fardeau; N Attia
Journal:  Muscle Nerve       Date:  1983-09       Impact factor: 3.217

5.  Dystrophin: the protein product of the Duchenne muscular dystrophy locus.

Authors:  E P Hoffman; R H Brown; L M Kunkel
Journal:  Cell       Date:  1987-12-24       Impact factor: 41.582

6.  Severe muscular dystrophy in girls.

Authors:  D Gardner-Medwin; H M Johnston
Journal:  J Neurol Sci       Date:  1984-04       Impact factor: 3.181

7.  Patterns of exon deletions in Duchenne and Becker muscular dystrophy.

Authors:  A P Read; R C Mountford; S M Forrest; S J Kenwrick; K E Davies; R Harris
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

8.  Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.

Authors:  E P Hoffman; K H Fischbeck; R H Brown; M Johnson; R Medori; J D Loike; J B Harris; R Waterston; M Brooke; L Specht
Journal:  N Engl J Med       Date:  1988-05-26       Impact factor: 91.245

9.  Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred.

Authors:  M A Salih; M I Omer; R A Bayoumi; O Karrar; M Johnson
Journal:  Dev Med Child Neurol       Date:  1983-02       Impact factor: 5.449

Review 10.  Some studies of the Duchenne and autosomal recessive types of muscular dystrophy.

Authors:  D Gardner-Medwin; P Sharples
Journal:  Brain Dev       Date:  1989       Impact factor: 1.961
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  2 in total

1.  Becker-like muscular dystrophy in sisters.

Authors:  P Diószeghy; M Molnár; F Mechler
Journal:  Eur Arch Psychiatry Clin Neurosci       Date:  1995       Impact factor: 5.270

2.  Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.

Authors:  L V Nicholson; M A Johnson; K M Bushby; D Gardner-Medwin; A Curtis; I B Ginjaar; J T den Dunnen; J L Welch; T J Butler; E Bakker
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318
  2 in total

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