Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

@article{England1990VeryMM,
  title={Very mild muscular dystrophy associated with the deletion of 46\% of dystrophin},
  author={S B England and Louise V. B. Nicholson and M Austin Johnson and Susan M. Forrest and Donald R. Love and Elizabeth E. Zubrzycka-Gaarn and Dennis E. Bulman and J. Brian Harris and Kay E Davies},
  journal={Nature},
  year={1990},
  volume={343},
  pages={180-182}
}
DUCHENNE muscular dystrophy (DMD)1 and Becker muscular dystrophy (BMD), a much milder form of the disease where the age of onset can sometimes be as late as the third or fourth decade of life, are caused by mutations in the same X-linked gene2–7, a 14 kilobase (kb) transcript6,7 which is spread over more than 2 megabases of the human X chromosome8–10. The corresponding protein, dystrophin, has a relative molecular mass of 400,000 (ref. 11). Most mutations causing DMD and BMD are deleá-tions7,12… Expand
Duchenne muscular dystrophy.
TLDR
Duchenne and Becker muscular dystrophy are X-linked muscle-wasting disorders that arise from mutations in the gene coding for dystrophin that lead to progressive muscle fiber necrosis and the loss of ambulation. Expand
Becker muscular dystrophy severity is linked to the structure of dystrophin.
TLDR
Disease progression in BMD patients appears to be dependent on the deletion itself and associated with a specific structure of dystrophin at the deletion site, as well as moderately reduced in most patients without clear correlation with the deletion type. Expand
Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies.
  • E. Le Rumeur
  • Medicine
  • Bosnian journal of basic medical sciences
  • 2015
TLDR
The aim of this review is to report for the correlation between dystrophin structures in BMD deletions in view of this heterogeneity and to emphasize that examining BMD patients in details is highly relevant to anticipate for DMD therapy effects. Expand
Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies.
TLDR
The aim of this review is to report for the correlation between dystrophin structures in BMD deletions in view of this heterogeneity and to emphasize that examining BMD patients in details is highly relevant to anticipate for DMD therapy effects. Expand
Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec
TLDR
Whether the dystrophin open reading frame (ORF) is maintained constrains the distribution of DMD/BMD deletions such that BMD deletions tend to be strikingly homogeneous. Expand
Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy
TLDR
A new monoclonal antibody directed against an peptide in the C-terminal end of the dystrophin molecule is shown to be preserved in 30 BMD and 24 control skeletal muscles but not in 21 DMD specimens, which substantiates the validity of the reading frame hypothesis for DMD versus BMD deletions on a biochemical level. Expand
Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series.
TLDR
Five patients with a diagnosis of BMD are presented, including two identical twins, with a deletion of exon 48 of the dystrophin gene, who experienced prominent muscle cramps from the age of three, and two brothers who displayed marked, unusual intrafamilial variability of the clinical picture as well as showing a new point mutation in the dyStrophin genes. Expand
Gene Replacement Therapy for Duchenne Muscular Dystrophy
TLDR
Miniaturized mini- and micro-dystrophin constructs have been developed for gene therapy and tested in preclinical animal models, and recombinant adeno-associated viral vectors (rAAV) have shown significant improvement in the DMD pathology of mice and dogs, although complete correction has yet to be attained. Expand
Amino‐terminal deletion of 53% of dystrophin results in an intermediate Duchenne‐Becker muscular dystrophy phenotype
TLDR
Investigation of a Japanese boy with muscular dystrophy whose clinical symptoms were intermediate between those usually considered typical of Duchenne and Becker muscular dystrophies found a large inframe deletion extending from exons 3 to 41 of the dyStrophin gene, which would be expected to cause a dystrophic protein composing only 53% of the normal polypeptide chain. Expand
Therapeutic strategies for Duchenne and Becker dystrophies.
TLDR
Pharmacological strategies designed to overexpress utrophin appear promising and may circumvent many obstacles to gene and cell-based therapies. Expand
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References

SHOWING 1-10 OF 24 REFERENCES
Preferential deletion of exons in Duchenne and Becker muscular dystrophies
TLDR
Using a complementary DNA subclone of the DMD gene, screened 66 DMD and BMD patients who had not previously shown deletions with the probes, and is able to detect deletions directly in 40% of families requiring antenatal diagnosis or carrier detection. Expand
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
TLDR
The distribution and frequency of deletions spanning the entire locus suggests that many "in-frame" deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features. Expand
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder which affects approximately 1 in 3,300 males, making it the most common of the neuromuscular dystrophies (see ref. 1 for review).Expand
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
TLDR
The results indicate that the DXS164 locus apparently recombines with DMD 5% of the time, but is probably located between independent sites of mutation which yield DMD, and it is evident that the deletions at the DMD locus are frequent and extremely large. Expand
The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle
TLDR
It is shown that anti-bodies directed against synthetic peptides and fusion proteins derived from the N-terminal region of human DMD cDNA strongly react with an antigen present in skeletal muscle sar-colemma on cryostat sections of normal human muscle biopsies and concludes that the product of the DMD gene is associated with the sar colemma rather than with the triads. Expand
Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies.
Fetal muscle cDNA clones covering at least 11.4 kb of the Duchenne muscular dystrophy (DMD) gene sequence were used to identify a deletion-prone region in DNA from DMD and Becker muscular dystrophyExpand
Long-range restriction map around the Duchenne muscular dystrophy gene
Duchenne muscular dystrophy (DMD, reviewed in ref. 1) is an X-linked recessive disease affecting about 1 in 4,000 newborn boys. As in many other inherited diseases, the biochemical basis of theExpand
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. Expand
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. Expand
Dystrophin: The protein product of the duchenne muscular dystrophy locus
TLDR
The identification of the mdx mouse as an animal model for DMD has important implications with regard to the etiology of the lethal DMD phenotype, and the protein dystrophin is named because of its identification via the isolation of the Duchenne muscular dystrophy locus. Expand
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