Literature DB >> 2404853

A normal male with an inherited deletion of one exon within the DMD gene.

M Nordenskjöld1, L Nicholson, L Edström, M Anvret, M Eiserman, C Slater, L Stolpe.   

Abstract

We describe two brothers with identical inherited deletions of one single exon within the middle of the DMD gene; one brother has Becker muscular dystrophy diagnosed at 11 years of age, whereas the older brother is normal at 18. These results have implications for genetic counselling and prenatal diagnosis in families with Becker muscular dystrophy.

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Year:  1990        PMID： 2404853     DOI： 10.1007/bf00208944

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


  17 in total

1.  Preferential deletion of exons in Duchenne and Becker muscular dystrophies.

Authors:  S M Forrest; G S Cross; A Speer; D Gardner-Medwin; J Burn; K E Davies
Journal:  Nature       Date:  1987 Oct 15-21       Impact factor: 49.962

2.  Inherited deletion at Duchenne dystrophy locus in normal male.

Authors:  J Koh; R J Bartlett; M A Pericak-Vance; M C Speer; L H Yamaoka; K Phillips; W Y Hung; P N Ray; R G Worton; J R Gilbert
Journal:  Lancet       Date:  1987-11-14       Impact factor: 79.321

3.  Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.

Authors:  E Bonilla; C E Samitt; A F Miranda; A P Hays; G Salviati; S DiMauro; L M Kunkel; E P Hoffman; L P Rowland
Journal:  Cell       Date:  1988-08-12       Impact factor: 41.582

4.  Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy.

Authors:  E Bonilla; B Schmidt; C E Samitt; A F Miranda; A P Hays; A B de Oliveira; H W Chang; S Servidei; E Ricci; D S Younger
Journal:  Am J Pathol       Date:  1988-12       Impact factor: 4.307

5.  Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

Authors:  M Koenig; E P Hoffman; C J Bertelson; A P Monaco; C Feener; L M Kunkel
Journal:  Cell       Date:  1987-07-31       Impact factor: 41.582

6.  Deletion mapping in human renal cell carcinoma.

Authors:  U Bergerheim; M Nordenskjöld; V P Collins
Journal:  Cancer Res       Date:  1989-03-15       Impact factor: 12.701

7.  Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide.

Authors:  K Arahata; S Ishiura; T Ishiguro; T Tsukahara; Y Suhara; C Eguchi; T Ishihara; I Nonaka; E Ozawa; H Sugita
Journal:  Nature       Date:  1988-06-30       Impact factor: 49.962

8.  Dystrophin in skeletal muscle. II. Immunoreactivity in patients with Xp21 muscular dystrophy.

Authors:  L V Nicholson; K Davison; M A Johnson; C R Slater; C Young; S Bhattacharya; D Gardner-Medwin; J B Harris
Journal:  J Neurol Sci       Date:  1989-12       Impact factor: 3.181

9.  Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody.

Authors:  L V Nicholson; K Davison; G Falkous; C Harwood; E O'Donnell; C R Slater; J B Harris
Journal:  J Neurol Sci       Date:  1989-12       Impact factor: 3.181

10.  Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus.

Authors:  C A Feener; M Koenig; L M Kunkel
Journal:  Nature       Date:  1989-04-06       Impact factor: 49.962
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  4 in total

1.  DNA analysis in Turkish Duchenne/Becker muscular dystrophy families.

Authors:  E Battaloğlu; M Telatar; F Deymeer; P Serdaroğlu; F Kuseyri; C Ozdemir; M Apak; A Tolun
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

Review 2.  Recent advances in understanding muscular dystrophy.

Authors:  K M Bushby
Journal:  Arch Dis Child       Date:  1992-10       Impact factor: 3.791

3.  Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy.

Authors:  L V Nicholson; M A Johnson; D Gardner-Medwin; S Bhattacharya; J B Harris
Journal:  Acta Neuropathol       Date:  1990       Impact factor: 17.088

4.  A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene.

Authors:  Janusz G Zimowski; Jacek Pilch; Magdalena Pawelec; Joanna K Purzycka; Jolanta Kubalska; Karolina Ziora-Jakutowicz; Magdalena Dudzińska; Jacek Zaremba
Journal:  J Appl Genet       Date:  2017-02-28       Impact factor: 3.240
  4 in total

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