Literature DB >> 7381863

No sex difference in mutations rates of Duchenne muscular dystrophy.

N Yasuda, K Kondô.   

Abstract

Segregation analysis was performed to evaluate possible differences in mutation rates in man. It was based on 514 males with Duchenne type muscular dystrophy (DMD) from five of nineteen hospitals for muscular disease in Japan. The estimated proportion of sporadic cases (new mutations) was 0.29 +/- 0.046, which is in excellent agreement with the expected 0.333 if there is no sex difference in mutation rates. The rate of mutation was estimated to be 6.3 X 10(-5) per generation. The incidence and prevalence rates among males were estimated to be 217 X 10(-6) and 49.9 X 10(-6), respectively.

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Year:  1980        PMID: 7381863      PMCID: PMC1048512          DOI: 10.1136/jmg.17.2.106

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


  11 in total

1.  Genetic tests under incomplete ascertainment.

Authors:  N E MORTON
Journal:  Am J Hum Genet       Date:  1959-03       Impact factor: 11.025

2.  Human oogenesis.

Authors:  S OHNO; H P KLINGER; N B ATKIN
Journal:  Cytogenetics       Date:  1962

3.  A two-locus selection hypothesis for Duchenne muscular dystrophy.

Authors:  M Skolnick; D Carmelli
Journal:  Theor Popul Biol       Date:  1977-10       Impact factor: 1.570

4.  Letter: Mutation in Duchenne muscular dystrophy.

Authors:  F H Tyler; M Skolnick
Journal:  N Engl J Med       Date:  1976-07-29       Impact factor: 91.245

5.  Genetic-epidemiological studies in progressive muscular dystrophy.

Authors:  J Prot
Journal:  J Med Genet       Date:  1971-03       Impact factor: 6.318

6.  Systemic membrane defect in the proximal muscular dystrophies.

Authors:  N A Pickard; H D Gruemer; H L Verrill; E R Isaacs; M Robinow; W E Nance; E C Myers; B Goldsmith
Journal:  N Engl J Med       Date:  1978-10-19       Impact factor: 91.245

7.  The incidence of Duchenne muscular dystrophy in the South East of Scotland.

Authors:  A P Brooks; A E Emery
Journal:  Clin Genet       Date:  1977-04       Impact factor: 4.438

8.  Effects of reproductive compensation and genetic drift on X-linked lethals.

Authors:  K Lange; K Gladstien; M Zatz
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

9.  Pedigree testing in Duchenne muscular dystrophy.

Authors:  A D Roses; M J Roses; B S Metcalf; K L Hull; G A Nicholson; G B Hartwig; C R Roe
Journal:  Ann Neurol       Date:  1977-10       Impact factor: 10.422

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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  17 in total

1.  Molecular study of Duchenne and Becker muscular dystrophies in Japanese.

Authors:  H Tsukamoto; K Inui; H Fukushima; T Nishigaki; M Taniike; J Tanaka; S Okada
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

2.  Segregation analysis of hemophilia A and B.

Authors:  I Barrai; H M Cann; L L Cavalli-Sforza; G Barbujani; P De Nicola
Journal:  Am J Hum Genet       Date:  1985-07       Impact factor: 11.025

3.  On the estimation of the proportion of sporadic cases in Duchenne muscular dystrophy.

Authors:  G A Danieli; G Barbujani
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

4.  On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms.

Authors:  E R Karel; G J te Meerman; L P Ten Kate
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

5.  Sporadic cases in Duchenne muscular dystrophy. A reappraisal through segregation analysis on 988 sibships.

Authors:  A Russo; G Barbujani; M L Mostacciuolo; F H Herrmann; A W Spiegler; G Galluzzi; G A Danieli
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

6.  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 7.  Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

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

8.  Duchenne muscular dystrophy. Frequency of sporadic cases.

Authors:  G A Danieli; G Barbujani
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases.

Authors:  G Barbujani; A Russo; G A Danieli; A W Spiegler; J Borkowska; I H Petrusewicz
Journal:  Hum Genet       Date:  1990-05       Impact factor: 4.132

10.  Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.

Authors:  Richard R Bennett; Hal E Schneider; Elicia Estrella; Stephanie Burgess; Andrew S Cheng; Caitlin Barrett; Va Lip; Poh San Lai; Yiping Shen; Bai-Lin Wu; Basil T Darras; Alan H Beggs; Louis M Kunkel
Journal:  BMC Genet       Date:  2009-10-18       Impact factor: 2.797

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