• Corpus ID: 2883531

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

@article{Koenig1989TheMB,
  title={The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.},
  author={Michel Koenig and A H Beggs and Matthew J. Moyer and Stephanie Scherpf and K Heindrich and Thomas Bettecken and Gerhard Meng and Clemens R. M{\"u}ller and Mikael Lindl{\"o}f and Helena K{\aa}{\aa}ri{\aa}inen and A de la Chapellet and Anne Kiuru and M-L. Savontaus and H{\'e}l{\`e}ne Gilgenkrantz and Dominique R{\'e}can and Jamel Chelly and Jean Claude Kaplan and Angela Elvira Covone and Nicoletta Archidiacono and Giovanni Romeo and S Liechti-Gailati and V. Schneider and Suzanne Braga and Hans Moser and Basil T. Darras and P Murphy and Uta Francke and J. D. Chen and Graeme Morgan and Michael J. Denton and Cheryl R. Greenberg and Klaus Wrogemann and Lau A.J. Blonden and M van Paassen and G.-J.B. van Ommen and Louis M. Kunkel},
  journal={American journal of human genetics},
  year={1989},
  volume={45 4},
  pages={
          498-506
        }
}
About 60% of both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) is due to deletions of the dystrophin gene. For cases with a deletion mutation, the "reading frame" hypothesis predicts that BMD patients produce a semifunctional, internally deleted dystrophin protein, whereas DMD patients produce a severely truncated protein that would be unstable. To test the validity of this theory, we analyzed 258 independent deletions at the DMD/BMD locus. The correlation between… 
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It is speculated that a deletion around exon 1 may severely damage the expression and/or the function of dystrophin selectively in cardiac muscle, but not in skeletal muscle.
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Deletion screening and point mutation analysis in regions of the Duchenne/Becker muscular dystrophy gene
TLDR
The correlation between deletion and phenotype was examined and found to fit the reading-frame model proposed to explain the clinical difference in severity between DMD and BMD patients, and the ability of PCR to amplify DNA fragments from small starting amounts of not necessarily good quality DNA permitted the amplification of DNA extracted from haematoxylin and eosin stained tissue sections.
Becker muscular dystrophy in Indian patients: analysis of dystrophin gene deletion patterns.
TLDR
This significant gene deletion analysis has been carried out for Becker muscular dystrophy patients particularly from Western India using 32 exons.
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TLDR
It is proposed that DNA mutation analysis be included in the initial evaluation of patients suspected of having DMD/BMD, thus potentially eliminating the need for muscle biopsy in the majority of patients.
Molecular study of duchenne and Becker muscular dystrophies in Japanese
TLDR
To study the frequency and distribution pattern of intragenic deletions in Japanese DMD or BMD patients, the dystrophin gene was examined in 28 patients with DMD, BMD or high serum creatine kinase (CK) value, using the polymerase chain reaction (PCR) and Southern blot analysis.
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References

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Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.
TLDR
In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained, and a model for reinitiation from an internal start codon is suggested.
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
TLDR
A molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions of the same gene locus is presented and is applicable to potential 5' and 3' intron splice mutations and their effect on protein production and clinical phenotype.
Gene deletions in X-linked muscular dystrophy.
TLDR
It is concluded that cDNA hybridization studies provide a powerful diagnostic tool in DMD and BMD and that they promise to produce better insights into molecular-clinical correlations.
A cDNA clone from the Duchenne/Becker muscular dystrophy gene
TLDR
An adult muscle cDNA clone from the DXS206 locus that detects a 16-kb mRNA in adult human muscle is presented, indicating that the translocation has disrupted the DMD/BMD gene to cause the disease in this patient.
EFFECTIVE STRATEGY FOR PRENATAL PREDICTION OF DUCHENNE AND BECKER MUSCULAR DYSTROPHY
TLDR
Deletions in the gene sequence for Duchenne (DMD) and Becker (BMD) muscular dystrophy were detected in affected males with four cDNA probes, Cf56a, Cf23a, Ca1A, and Cf27, and the probes were used successfully for prenatal diagnosis in two families each with two DMD affected males.
Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies
TLDR
For some cases with deletions in the two high-frequency deletion regions, the predicted effect upon translational reading frame of the resultant dystrophin mRNA did not correlate with the associated disease phenotype.
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.
TLDR
These data show the clinical consequences of both quantitative alterations (in Duchenne's and intermediate dystrophy) in a single protein, and the biochemical assay for dystrophin should prove helpful in delineating myopathies that overlap clinically with DuchenNE's and Becker's Dystrophies and shows promise as an accurate diagnostic tool.
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
TLDR
A correlation was found between severity and progression of the muscular dystrophy phenotype and the sizes of the gene deletions, and no deletions were found with the dystrophin cDNA in cases in which there was glycerol kinase deficiency/adrenal hypoplasia microdeletion syndrome without myopathy.
A deletion hot spot in the Duchenne muscular dystrophy gene.
TLDR
P20 detects 16% deletions in patients suffering from either DMD or Becker muscular dystrophy (BMD), in sharp contrast to the adjacent intragenic markers JBir and J66, which make P20 useful for carrier detection, prenatal diagnosis, and the study of deletion induction in both DMD and BMD.
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
TLDR
The 14 kb human Duchenne muscular dystrophy cDNA corresponding to a complete representation of the fetal skeletal muscle transcript has been cloned and the majority of deletions are concentrated in a single genomic segment corresponding to only 2 kb of the transcript.
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