Literature DB >> 7252996

A genetic study of Duchenne muscular dystrophy in West Midlands.

S Bundey.   

Abstract

A study of Duchenne muscular dystrophy has shown an approximate prevalence of the disease among schoolboys to be 1 in 4000. Fifty-four families were available for genetic studies. In 19 families there were further affected cases and in 34 families the index patients was an isolated case. The proportion of affected brothers was 0.22 (11 of 50). There were 142 female relatives who had a risk of 1 in 10 or worse of being carriers: 66 of these were aged under 16. As genetic counselling is being increasingly requested by these families, and expansion of genetic services is envisaged. A genetic register, with frequent contact with families by ancillary staff, similar to that in Edinburgh, is considered desirable for the West Midlands.

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Year:  1981        PMID: 7252996      PMCID: PMC1048649          DOI: 10.1136/jmg.18.1.1

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  17 in total

1.  Genetic counselling in X-linked muscular dystrophy.

Authors:  A E Emery
Journal:  J Neurol Sci       Date:  1969 May-Jun       Impact factor: 3.181

2.  The manifesting carrier in Duchenne muscular dystrophy.

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

3.  Mutation rate in Duchenne type of muscular dystrophy.

Authors:  D Gardner-Medwin
Journal:  J Med Genet       Date:  1970-12       Impact factor: 6.318

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

Authors:  G A Nicholson; D Gardner-Medwin; R J Pennington; J N Walton
Journal:  Lancet       Date:  1979-03-31       Impact factor: 79.321

5.  Frequency of Duchenne muscular dystrophy carriers.

Authors:  M Zatz; K Lange; M A Spence
Journal:  Lancet       Date:  1977-04-02       Impact factor: 79.321

6.  Use of overlapping normal distributions in genetic counselling.

Authors:  N R Dennis; C O Carter
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

7.  Early diagnosis of Duchenne muscular dystrophy.

Authors:  D Gardner-Medwin; S Bundey; S Green
Journal:  Lancet       Date:  1978-05-20       Impact factor: 79.321

8.  Letter: Very early diagnosis of Duchenne muscular dystrophy.

Authors:  I M Siegel
Journal:  Lancet       Date:  1976-07-10       Impact factor: 79.321

9.  Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study.

Authors:  M Zatz; O Frota-Pessoa; J A Levy; C A Peres
Journal:  J Genet Hum       Date:  1976-06

10.  Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy.

Authors:  A M Davie; A E Emery
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

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  6 in total

1.  Are abortions more or less frequent once prenatal diagnosis is available?

Authors:  S Bundey; E Boughton
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

2.  Prevalence of Duchenne and Becker muscular dystrophies in the United States.

Authors:  Paul A Romitti; Yong Zhu; Soman Puzhankara; Katherine A James; Sarah K Nabukera; Gideon K D Zamba; Emma Ciafaloni; Christopher Cunniff; Charlotte M Druschel; Katherine D Mathews; Dennis J Matthews; F John Meaney; Jennifer G Andrews; Kristin M Caspers Conway; Deborah J Fox; Natalie Street; Melissa M Adams; Julie Bolen
Journal:  Pediatrics       Date:  2015-02-16       Impact factor: 7.124

Review 3.  Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

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

4.  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

5.  Racial distribution of Duchenne muscular dystrophy in the West Midlands region of Britain.

Authors:  A Roddie; S Bundey
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

6.  Duchenne and Becker Muscular Dystrophies' Prevalence in MD STARnet Surveillance Sites: An Examination of Racial and Ethnic Differences.

Authors:  Yanan Zhang; Joshua R Mann; Katherine A James; Suzanne McDermott; Kristin M Conway; Pangaja Paramsothy; Tiffany Smith; Bo Cai
Journal:  Neuroepidemiology       Date:  2021-01-21       Impact factor: 3.282

  6 in total

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