Literature DB >> 3557448

Population data on benign and severe forms of X-linked muscular dystrophy.

M L Mostacciuolo, A Lombardi, V Cambissa, G A Danieli, C Angelini.   

Abstract

Epidemiological data on Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) from a large sample of the Italian population are reported. For BMD the incidence rate was found to be 5.5 X 10(-5) live-born males (lbm) and the prevalence rate, 13.1 X 10(-6); the mutation rate was estimated to be about 6.0 X 10(-6). For DMD the incidence and prevalence rates were found to be respectively 26 X 10(-5) lbm and 31.6 X 10(-6). The DMD mutation rate obtained by the Haldane formula was 86.6 X 10(-6) and by the semi-direct method, 65.6 X 10(-6). The results are discussed in the light of possible allelism of BMD and DMD.

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Year:  1987        PMID: 3557448     DOI: 10.1007/BF00281062

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


  15 in total

1.  [A new x-chromosomal muscular dystrophy].

Authors:  P E BECKER; F KIENER
Journal:  Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr       Date:  1955

2.  Duchenne muscular dystrophy. Collaboration and progress.

Authors:  P N Goodfellow
Journal:  Nature       Date:  1986 Jul 3-9       Impact factor: 49.962

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.  Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids.

Authors:  L Roncuzzi; S Fadda; M Mochi; L Prosperi; S Sangiorgi; R Santamaria; D Sbarra; D Besana; L Morandi; M Rocchi
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025

5.  Quantitation of muscle function in children: a prospective study in Duchenne muscular dystrophy.

Authors:  O M Scott; S A Hyde; C Goddard; V Dubowitz
Journal:  Muscle Nerve       Date:  1982-04       Impact factor: 3.217

6.  Prospective study of X-linked progressive muscular dystrophy in Campania.

Authors:  G Nigro; L I Comi; F M Limongelli; M A Giugliano; L Politano; V Petretta; L Passamano; S Stefanelli
Journal:  Muscle Nerve       Date:  1983-05       Impact factor: 3.217

7.  Atypical form of X-linked proximal pseudohypertrophic muscular dystrophy.

Authors:  A W Spiegler; I Hausmanowa-Petrusewicz; J Borkowska; F H Herrmann
Journal:  J Neurol       Date:  1987-04       Impact factor: 4.849

8.  Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9).

Authors:  S Fadda; M Mochi; L Roncuzzi; S Sangiorgi; D Sbarra; M Zatz; G Romeo
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

9.  Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.

Authors:  H Dorkins; C Junien; J L Mandel; K Wrogemann; J P Moison; M Martinez; J M Old; S Bundey; M Schwartz; N Carpenter
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

10.  Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.

Authors:  A P Monaco; C J Bertelson; W Middlesworth; C A Colletti; J Aldridge; K H Fischbeck; R Bartlett; M A Pericak-Vance; A D Roses; L M Kunkel
Journal:  Nature       Date:  1985 Aug 29-Sep 4       Impact factor: 49.962

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  8 in total

1.  Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.

Authors:  G K Suthers; J I Manson; L M Stern; E A Haan; J C Mulley
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

2.  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

3.  Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them.

Authors:  Yupeng Wu; Gengxin Yin; Keqin Fu; De Wu; Qian Zhai; Huarong Du; Zhongjun Huang; Yuhua Niu
Journal:  J Clin Lab Anal       Date:  2009       Impact factor: 2.352

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.  Investigation of a female manifesting Becker muscular dystrophy.

Authors:  I A Glass; L V Nicholson; E Watkiss; M A Johnson; R G Roberts; S Abbs; S Brittain-Jones; H G Boddie
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

6.  A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.

Authors:  Alistair T Pagnamenta; Richard Holt; Mohammed Yusuf; Dalila Pinto; Kirsty Wing; Catalina Betancur; Stephen W Scherer; Emanuela V Volpi; Anthony P Monaco
Journal:  J Neurodev Disord       Date:  2011-02-12       Impact factor: 4.025

7.  Efficacy and Safety Profile of Tricyclo-DNA Antisense Oligonucleotides in Duchenne Muscular Dystrophy Mouse Model.

Authors:  Karima Relizani; Graziella Griffith; Lucía Echevarría; Faouzi Zarrouki; Patricia Facchinetti; Cyrille Vaillend; Christian Leumann; Luis Garcia; Aurélie Goyenvalle
Journal:  Mol Ther Nucleic Acids       Date:  2017-06-22       Impact factor: 8.886

Review 8.  Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis.

Authors:  Salvatore Crisafulli; Janet Sultana; Andrea Fontana; Francesco Salvo; Sonia Messina; Gianluca Trifirò
Journal:  Orphanet J Rare Dis       Date:  2020-06-05       Impact factor: 4.123

  8 in total

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