Literature DB >> 2653075

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

D Gardner-Medwin1, P Sharples.   

Abstract

The prevalence of Duchenne muscular dystrophy in the North of England (population 3.07 million) was 4.0 x 10(-5) in 1968, 3.6 x 10(-5) in 1979 and at least 2.3 x 10(-5) in 1988. The incidence in males was 31.2, 22.4 and at least 17.8 x 10(-5) in successive decades since 1952. Thirty-five percent of cases over the last 35 years have been preventable; but recently major additional educational programmes and routine screening tests for presymptomatic cases would have been required to improve prevention. The mortality has not changed in the last 20 years. Previously published criteria for the diagnosis of autosomal recessive muscular dystrophy in childhood have been tested prospectively. Seven new children fitting these criteria and 6 other girls with muscular dystrophy are described. Only 5 appear to have the autosomal recessive disease. Two boys had DNA deletions and 2 girls were severely manifesting carriers of the Duchenne gene.

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Year:  1989        PMID: 2653075     DOI: 10.1016/s0387-7604(89)80075-0

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  6 in total

Review 1.  Genetic and clinical correlations of Xp21 muscular dystrophy.

Authors:  K M Bushby
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Uses and limitations of twin studies.

Authors:  S Bundey
Journal:  J Neurol       Date:  1991-10       Impact factor: 4.849

3.  The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history.

Authors:  K M Bushby; D Gardner-Medwin
Journal:  J Neurol       Date:  1993-02       Impact factor: 4.849

4.  Correlation between electroretinogram findings and molecular analysis in the Duchenne muscular dystrophy phenotype.

Authors:  I De Becker; D C Riddell; J M Dooley; F Tremblay
Journal:  Br J Ophthalmol       Date:  1994-09       Impact factor: 4.638

5.  Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands.

Authors:  A J van Essen; H F Busch; G J te Meerman; L P ten Kate
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

6.  Dystrophin analysis in the diagnosis of muscular dystrophy.

Authors:  A M Norman; H E Hughes; D Gardner-Medwin; L V Nicholson
Journal:  Arch Dis Child       Date:  1989-10       Impact factor: 3.791

  6 in total

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