Literature DB >> 8006687

A 400-kb tandem duplication within the dystrophin gene leads to severe Becker muscular dystrophy.

R Gold1, W Kress, T Bettecken, H Reichmann, C R Müller.   

Abstract

We describe a family with a large duplication of exons 2-16 of the dystrophin gene. It was characterized by immunocytochemistry, field-inversion gel electrophoresis and quantitative Southern blots. Our observations are of clinical interest in that they demonstrate an intermediate disease course despite a disrupted reading frame of dystrophin as postulated from exon-intron boundaries. We discuss possible mechanisms which may explain the unusual phenotype in our patient.

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Year:  1994        PMID： 8006687     DOI： 10.1007/BF00868442

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  19 in total

1.  Duchenne muscular dystrophy: evidence for somatic reversion of the mutation in man.

Authors:  R Gold; B Meurers; H Reichmann; W Kress; C R Müller
Journal:  J Neurol       Date:  1990-12       Impact factor: 4.849

2.  Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy.

Authors:  K Arahata; T Ishihara; K Kamakura; T Tsukahara; S Ishiura; C Baba; T Matsumoto; I Nonaka; H Sugita
Journal:  N Engl J Med       Date:  1989-01-19       Impact factor: 91.245

3.  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

4.  Dystrophin: the protein product of the Duchenne muscular dystrophy locus.

Authors:  E P Hoffman; R H Brown; L M Kunkel
Journal:  Cell       Date:  1987-12-24       Impact factor: 41.582

5.  Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.

Authors:  S B Malhotra; K A Hart; H J Klamut; N S Thomas; S E Bodrug; A H Burghes; M Bobrow; P S Harper; M W Thompson; P N Ray
Journal:  Science       Date:  1988-11-04       Impact factor: 47.728

6.  Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis.

Authors:  R Gold; W Kress; B Meurers; G Meng; H Reichmann; C R Müller
Journal:  Muscle Nerve       Date:  1992-02       Impact factor: 3.217

7.  Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels.

Authors:  J T den Dunnen; E Bakker; E G Breteler; P L Pearson; G J van Ommen
Journal:  Nature       Date:  1987 Oct 15-21       Impact factor: 49.962

8.  The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

Authors:  M Koenig; A H Beggs; M Moyer; S Scherpf; K Heindrich; T Bettecken; G Meng; C R Müller; M Lindlöf; H Kaariainen; A de la Chapellet; A Kiuru; M L Savontaus; H Gilgenkrantz; D Récan; J Chelly; J C Kaplan; A E Covone; N Archidiacono; G Romeo; S Liechti-Gailati; V Schneider; S Braga; H Moser; B T Darras; P Murphy; U Francke; J D Chen; G Morgan; M Denton; C R Greenberg; K Wrogemann; L A Blonden; M B van Paassen; G J van Ommen; L M Kunkel
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

9.  Dystrophin in frameshift deletion patients with Becker muscular dystrophy.

Authors:  S B Gangopadhyay; T G Sherratt; J Z Heckmatt; V Dubowitz; G Miller; M Shokeir; P N Ray; P N Strong; R G Worton
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

10.  Enormous dystrophin in a patient with Becker muscular dystrophy.

Authors:  C Angelini; A H Beggs; E P Hoffman; M Fanin; L M Kunkel
Journal:  Neurology       Date:  1990-05       Impact factor: 9.910
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