Literature DB >> 3169738

Patterns of exon deletions in Duchenne and Becker muscular dystrophy.

A P Read1, R C Mountford, S M Forrest, S J Kenwrick, K E Davies, R Harris.   

Abstract

A panel of patients with Duchenne and Becker muscular dystrophy (DMD and BMD) has been screened with the cDNA probes Cf56a and Cf23a, which detect exons in the central part of the DMD gene. One or more exons were deleted in 60% of patients. The deletions were mapped and prove to be heterogeneous in size and extent, particularly in DMD. Deletions specific to DMD and to BMD are described. Half of all BMD patients have a deletion of one particular small group of exons; smaller deletions within this same group produce the more severe DMD.

Entities:  

Mesh：

Year:  1988        PMID： 3169738     DOI： 10.1007/bf00702859

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.  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

3.  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

4.  Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.

Authors:  L M Kunkel; J F Hejtmancik; C T Caskey; A Speer; A P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; M A Pericak-Vance; A D Roses; M W Thompson; P N Ray; R G Worton; K H Fischbeck; P Gallano; M Coulon; C Duros; J Boue; C Junien; J Chelly; G Hamard; M Jeanpierre; M Lambert; J C Kaplan; A Emery; H Dorkins; S McGlade; K E Davies; C Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; M Bobrow; F Benham; E Boswinkel; C Cole; V Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; A Ferlini; C Nobile; G Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; C Searby; R Ionasescu; E Bakker; G J van Ommen; P L Pearson; C R Greenberg; J L Hamerton; K Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; J F Harper; B T Darras; U Francke
Journal:  Nature       Date:  1986 Jul 3-9       Impact factor: 49.962

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.  A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.

Authors:  B T Darras; U Francke
Journal:  Nature       Date:  1987 Oct 8-14       Impact factor: 49.962

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.  Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome.

Authors:  K E Davies; T J Smith; S Bundey; A P Read; T Flint; M Bell; A Speer
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318

9.  Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.

Authors:  A P Monaco; R L Neve; C Colletti-Feener; C J Bertelson; D M Kurnit; L M Kunkel
Journal:  Nature       Date:  1986 Oct 16-22       Impact factor: 49.962

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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  19 in total

1.  A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane.

Authors:  T R Helliwell; J M Ellis; R C Mountford; R E Appleton; G E Morris
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

2.  Duchenne muscular dystrophy in Wales: impact of DNA linkage analysis and cDNA deletion screening.

Authors:  A M Norman; M Upadhyaya; N S Thomas; K Roberts; P S Harper
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

3.  Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease?

Authors:  R G Elles; A P Read; K A Hodgkinson; A Watters; R Harris
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

4.  A BanI RFLP at a deletion hotspot in the human dystrophin gene.

Authors:  A P Read; R Mountford
Journal:  Nucleic Acids Res       Date:  1990-01-25       Impact factor: 16.971

5.  Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis.

Authors:  E D Kelly; C A Graham; A J Hill; N C Nevin
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

6.  Becker muscular dystrophy: correlation of deletion type with clinical severity.

Authors:  A M Norman; N S Thomas; H M Kingston; P S Harper
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

7.  X linked or autosomal recessive? A new approach to an old problem.

Authors:  A P Read
Journal:  J Med Genet       Date:  1989-05       Impact factor: 6.318

8.  Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy.

Authors:  T M Nguyen; G E Morris
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

9.  Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.

Authors:  L Florentin; A Mavrou; K Kekou; C Metaxotou
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

10.  Monoclonal antibodies against the muscle-specific N-terminus of dystrophin: characterization of dystrophin in a muscular dystrophy patient with a frameshift deletion of exons 3-7.

Authors:  T T Le; T M Nguyen; D R Love; T R Helliwell; K E Davies; G E Morris
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025
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