Literature DB >> 7897627

Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.

L Florentin1, A Mavrou, K Kekou, C Metaxotou.   

Abstract

We present molecular data from 90 Greek boys with Duchenne or Becker muscular dystrophy using cDNA analysis or multiplex PCR or both. Deletions were detected in 63.3% of patients and were mainly clustered in two areas of the gene, one in the 3' and one in the 5' end of the gene (exons 3-19 and 44-53). Almost 17% of deletion breakpoints lay in intron 44 while 29% of deletions have a breakpoint in intron 50. Thus the distribution of deletions in our DMD/BMD patients differs from that previously reported. Furthermore a 1:4.35 proximal:distal ratio was observed in familial cases and a 1:2.45 ratio in isolated ones.

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Year:  1995        PMID: 7897627      PMCID: PMC1050179          DOI: 10.1136/jmg.32.1.48

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  19 in total

1.  Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

Authors:  B T Darras; P Blattner; J F Harper; A J Spiro; S Alter; U Francke
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

2.  A deletion hot spot in the Duchenne muscular dystrophy gene.

Authors:  M C Wapenaar; T Kievits; K A Hart; S Abbs; L A Blonden; J T den Dunnen; P M Grootscholten; E Bakker; C Verellen-Dumoulin; M Bobrow
Journal:  Genomics       Date:  1988-02       Impact factor: 5.736

3.  Detection of novel genetic markers by mismatch analysis.

Authors:  R G Roberts; A J Montandon; M Bobrow; D R Bentley
Journal:  Nucleic Acids Res       Date:  1989-08-11       Impact factor: 16.971

4.  Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Authors:  J T Den Dunnen; P M Grootscholten; E Bakker; L A Blonden; H B Ginjaar; M C Wapenaar; H M van Paassen; C van Broeckhoven; P L Pearson; G J van Ommen
Journal:  Am J Hum Genet       Date:  1989-12       Impact factor: 11.025

5.  Patterns of deletions of the dystrophin gene in different European populations.

Authors:  G A Danieli; F Mioni; C R Müller; L Vitiello; M L Mostacciuolo; T Grimm
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132

6.  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

7.  Patterns of exon deletions in Duchenne and Becker muscular dystrophy.

Authors:  A P Read; R C Mountford; S M Forrest; S J Kenwrick; K E Davies; R Harris
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

8.  Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy.

Authors:  S M Forrest; T J Smith; G S Cross; A P Read; N S Thomas; R C Mountford; P S Harper; R T Geirsson; K E Davies
Journal:  Lancet       Date:  1987-12-05       Impact factor: 79.321

9.  Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA.

Authors:  B T Darras; M Koenig; L M Kunkel; U Francke
Journal:  Am J Med Genet       Date:  1988-03

10.  Partial gene duplication in Duchenne and Becker muscular dystrophies.

Authors:  X Y Hu; A H Burghes; P N Ray; M W Thompson; E G Murphy; R G Worton
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

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  4 in total

1.  The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

Authors:  A J van Essen; A L Kneppers; A H van der Hout; H Scheffer; I B Ginjaar; L P ten Kate; G J van Ommen; C H Buys; E Bakker
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

2.  Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region.

Authors:  L Florentin; C Bili; K Kekou; N Tripodis; A Mavrou; C Metaxotou
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

3.  Patterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patients.

Authors:  R M El Sherif; N Aly Fahmy; I Nonaka; M A Etribi
Journal:  Acta Myol       Date:  2007-12

4.  Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations.

Authors:  Sankaramoorthy Aravind; Berty Ashley; Ashraf Mannan; Aparna Ganapathy; Keerthi Ramesh; Aparna Ramachandran; Upendra Nongthomba; Arun Shastry
Journal:  Indian J Med Res       Date:  2019-09       Impact factor: 2.375

  4 in total

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