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Literature DB >> 6469240

Duchenne muscular dystrophy. Frequency of sporadic cases.

Abstract

A segregation analysis on 135 Duchenne families from Venetia (Italy) suggests that the proportion of sporadic cases might be less than expected. Support for this view is also given by an analysis of a pooled sample including 284 additional sibships from comparable studies published previously. Several hypotheses were tested: the maximum likelihood was obtained for a segregation frequency p = 0.46 and for a proportion of sporadic cases x = 0.227 +/- 0.048.

Entities: Disease

Mesh：

Year: 1984 PMID： 6469240 DOI： 10.1007/bf00291351

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

21 in total

1. Carrier detection in Duchenne muscular dystrophy.

Authors: A D Roses; M J Roses; S E Miller; K L Hull; S H Appel
Journal: N Engl J Med Date: 1976-01-22 Impact factor: 91.245

2. 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

3. A probable sex difference in some mutation rates.

Authors: F Vogel
Journal: Am J Hum Genet Date: 1977-05 Impact factor: 11.025

4. 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

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. Simple segregation analysis: a review of its history and terminology.

Authors: F W Nicholas
Journal: J Hered Date: 1982 Nov-Dec Impact factor: 2.645

7. 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

8. 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

9. Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutation.

Authors: C T Caskey; R L Nussbaum; L C Cohan; L Pollack
Journal: Clin Genet Date: 1980-11 Impact factor: 4.438

10. Duchenne muscular dystrophy. A population study.

Authors: G A Danieli; M L Mostacciuolo; A Bonfante; C Angelini
Journal: Hum Genet Date: 1977-02-11 Impact factor: 4.132

9 in total

1. 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

2. 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

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. 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

5. Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.

Authors: M H Hofker; M C Wapenaar; N Goor; E Bakker; G J van Ommen; P L Pearson
Journal: Hum Genet Date: 1985 Impact factor: 4.132

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. RFLP analysis in families with sporadic hemophilia A. Estimate of the mutation ratio in male and female gametes.

Authors: F Bernardi; G Marchetti; V Bertagnolo; L Faggioli; S Volinia; P Patracchini; S Bartolai; F Vannini; L Felloni; L Rossi
Journal: Hum Genet Date: 1987-07 Impact factor: 4.132

8. 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

9. 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

9 in total