Literature DB >> 2325103

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

A M Norman1, N S Thomas, H M Kingston, P S Harper.   

Abstract

Molecular deletion screening with cDNA probes from the dystrophin gene was undertaken in patients with Becker muscular dystrophy from 58 separate families. Deletions were found in 41 (71%) of these families. Thirty-four (83%) of the deletions started in the same intron near the centre of the gene, and although there was no precise correlation between clinical severity and deletion pattern, the commonest deletion pattern, which was present in 49% of all deletion families, is associated with a mild phenotype.

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Year:  1990        PMID: 2325103      PMCID: PMC1017024          DOI: 10.1136/jmg.27.4.236

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


  17 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.  Localisation of gene for Becker muscular dystrophy.

Authors:  H M Kingston; P S Harper; P L Pearson; K E Davies; R Williamson; D Page
Journal:  Lancet       Date:  1983-11-19       Impact factor: 79.321

4.  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

5.  Distinction of Becker from limb-girdle muscular dystrophy by means of dystrophin cDNA probes.

Authors:  A Norman; N Thomas; J Coakley; P Harper
Journal:  Lancet       Date:  1989-03-04       Impact factor: 79.321

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.  Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies.

Authors:  S M Forrest; G S Cross; T Flint; A Speer; K J Robson; K E Davies
Journal:  Genomics       Date:  1988-02       Impact factor: 5.736

9.  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

10.  An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

Authors:  A P Monaco; C J Bertelson; S Liechti-Gallati; H Moser; L M Kunkel
Journal:  Genomics       Date:  1988-01       Impact factor: 5.736

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  12 in total

1.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Authors:  Jan P Schouten; Cathal J McElgunn; Raymond Waaijer; Danny Zwijnenburg; Filip Diepvens; Gerard Pals
Journal:  Nucleic Acids Res       Date:  2002-06-15       Impact factor: 16.971

2.  Two children with muscular dystrophies ascertained due to referral for diagnosis of autism.

Authors:  Lonnie Zwaigenbaum; Mark Tarnopolsky
Journal:  J Autism Dev Disord       Date:  2003-04

3.  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 4.  Recent advances in understanding muscular dystrophy.

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

Review 5.  Genetic and clinical correlations of Xp21 muscular dystrophy.

Authors:  K M Bushby
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

6.  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

7.  Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.

Authors:  R G Roberts; T F Barby; E Manners; M Bobrow; D R Bentley
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

8.  The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities.

Authors:  K M Bushby; D Gardner-Medwin; L V Nicholson; M A Johnson; I D Haggerty; N J Cleghorn; J B Harris; S S Bhattacharya
Journal:  J Neurol       Date:  1993-02       Impact factor: 4.849

9.  Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy.

Authors:  K M Bushby; N J Cleghorn; A Curtis; I D Haggerty; L V Nicholson; M A Johnson; J B Harris; S S Bhattacharya
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

10.  Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.

Authors:  L V Nicholson; M A Johnson; K M Bushby; D Gardner-Medwin; A Curtis; I B Ginjaar; J T den Dunnen; J L Welch; T J Butler; E Bakker
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

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