Literature DB >> 1587532

Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD).

B Müller1, C Dechant, G Meng, S Liechti-Gallati, R A Doherty, J F Hejtmancik, E Bakker, A P Read, M Jeanpierre, K H Fischbeck.   

Abstract

We present the results of an international collaborative study aimed at estimating the ratio of male to female mutation rates in Duchenne muscular dystrophy based on the method of C. Müller and T. Grimm. With a sample size of 295, this ratio is found to be very close to 1, thus giving evidence for equal mutation rates in males and females in Duchenne muscular dystrophy.

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Year:  1992        PMID： 1587532     DOI： 10.1007/bf00217124

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  10 in total

1.  Mutation in the sex-linked recessive type of muscular dystrophy; a possible sex difference.

Authors:  J B HALDANE
Journal:  Ann Hum Genet       Date:  1956-05       Impact factor: 1.670

2.  Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

Authors:  T Grimm; B Müller; C R Müller; M Janka
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

3.  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

4.  Ascertainment bias and power of procedures to estimate differences between male and female mutation rates.

Authors:  G J te Meerman; E R Karel; L P ten Kate
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

Review 5.  Prenatal diagnosis of Duchenne muscular dystrophy: a three-year experience in a rapidly evolving field.

Authors:  E Bakker; E J Bonten; H Veenema; J T den Dunnen; P M Grootscholten; G J van Ommen; P L Pearson
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

6.  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

7.  Germline mosaicism and Duchenne muscular dystrophy mutations.

Authors:  E Bakker; C Van Broeckhoven; E J Bonten; M J van de Vooren; H Veenema; W Van Hul; G J Van Ommen; A Vandenberghe; P L Pearson
Journal:  Nature       Date:  1987 Oct 8-14       Impact factor: 49.962

8.  A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.

Authors:  B T Darras; U Francke
Journal:  Nature       Date:  1987 Oct 8-14       Impact factor: 49.962

9.  Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families.

Authors:  C R Müller; T Grimm
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

10.  DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure.

Authors:  E Bakker; E J Bonten; L F De Lange; H Veenema; D Majoor-Krakauer; M H Hofker; G J Van Ommen; P L Pearson
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318
  10 in total
  4 in total

1.  Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.

Authors:  C Mimault; G Giraud; V Courtois; F Cailloux; J Y Boire; B Dastugue; O Boespflug-Tanguy
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

2.  Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

Authors:  J Becker; R Schwaab; A Möller-Taube; U Schwaab; W Schmidt; H H Brackmann; T Grimm; K Olek; J Oldenburg
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

3.  On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis.

Authors:  T Grimm; G Meng; S Liechti-Gallati; T Bettecken; C R Müller; B Müller
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

Review 4.  Multiplicity of experimental approaches to therapy for genetic muscle diseases and necessity for population screening.

Authors:  Nigel G Laing
Journal:  J Muscle Res Cell Motil       Date:  2008-12-30       Impact factor: 2.698
  4 in total

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