Literature DB >> 3030926

DNA deletions in mild and severe Becker muscular dystrophy.

K A Hart, S Hodgson, A Walker, C G Cole, L Johnson, V Dubowitz, M Bobrow.   

Abstract

The DNA of 33 patients diagnosed as suffering from Becker muscular dystrophy (BMD) has been probed with cloned DNA sequences from Xp21, known to reveal DNA deletions in patients suffering from the more severe Duchenne muscular dystrophy (DMD). Two BMD cases showed clear deletions. A third case gave aberrant band sizes, which further analysis showed to be caused by a small deletion. This suggests that deletions in DXS164 occur approximately as frequently in BMD as they do in DMD. Of the two cases showing large deletions, one is at the severe end of the Becker clinical spectrum, whilst the other is a classical Becker-type dystrophy. The fact that loci defined by probes commonly deleted in classical DMD patients are also deleted in BMD patients of varying severity is strong additional evidence that these disorders are allelic, and further justifies the use of probes with defined linkage relationships to DMD also being used for counselling in BMD families.

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Year:  1987        PMID: 3030926     DOI: 10.1007/BF00281075

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


  24 in total

1.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

2.  DNA deletion in boy with Becker muscular dystrophy.

Authors:  S Hodgson; K Hart; A Walker; C Cole; L Johnson; M Bobrow; V Dubowitz; L Kunkel
Journal:  Lancet       Date:  1986-04-19       Impact factor: 79.321

3.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

4.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

5.  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

6.  Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

Authors:  P N Ray; B Belfall; C Duff; C Logan; V Kean; M W Thompson; J E Sylvester; J L Gorski; R D Schmickel; R G Worton
Journal:  Nature       Date:  1985 Dec 19-1986 Jan 1       Impact factor: 49.962

7.  Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes.

Authors:  R G Worton; C Duff; J E Sylvester; R D Schmickel; H F Willard
Journal:  Science       Date:  1984-06-29       Impact factor: 47.728

8.  Multipoint linkage analysis of the short arm of the human X chromosome in families with X-linked muscular dystrophy.

Authors:  D E Wilcox; N A Affara; J R Yates; M A Ferguson-Smith; P L Pearson
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.  Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.

Authors:  C S Brown; N S Thomas; M Sarfarazi; K E Davies; L Kunkel; P L Pearson; H M Kingston; D J Shaw; P S Harper
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

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  13 in total

1.  Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.

Authors:  Gyula Acsadi; Steven A Moore; Angélique Chéron; Olivier Delalande; Lindsey Bennett; William Kupsky; Mohammad El-Baba; Elisabeth Le Rumeur; Jean-François Hubert
Journal:  J Biol Chem       Date:  2012-03-27       Impact factor: 5.157

2.  Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.

Authors:  X Y Hu; P N Ray; E G Murphy; M W Thompson; R G Worton
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

3.  A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region?

Authors:  K A Hart; A P Monaco; L M Kunkel; M Bobrow
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

4.  Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy.

Authors:  S Hodgson; K Hart; S Abbs; J Heckmatt; E Rodillo; M Bobrow; V Dubowitz
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

5.  Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

Authors:  E R McCabe; J Towbin; J Chamberlain; L Baumbach; J Witkowski; G J van Ommen; M Koenig; L M Kunkel; W K Seltzer
Journal:  J Clin Invest       Date:  1989-01       Impact factor: 14.808

6.  DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases.

Authors:  J C Defesche; M de Vissar; E Bakker; G Bouwsma; J J de Vijlder; P A Bolhuis
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

7.  Gene deletions in X-linked muscular dystrophy.

Authors:  M Lindlöf; A Kiuru; H Kääriäinen; H Kalimo; H Lang; H Pihko; J Rapola; H Somer; M Somer; M L Savontaus
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

Review 8.  Inherited deletion of subband Xp21.13 in a male with Duchenne muscular dystrophy.

Authors:  W Werner; A W Spiegler
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

9.  Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.

Authors:  E F Gillard; J S Chamberlain; E G Murphy; C L Duff; B Smith; A H Burghes; M W Thompson; J Sutherland; I Oss; S E Bodrug
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

10.  Familial deletion in Becker type muscular dystrophy within the pXJ region.

Authors:  S Liechti-Gallati; S Braga; H Hirsiger; H Moser
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

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