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Comparative Study
. 1989 Oct;45(4):498-506.

The Molecular Basis for Duchenne Versus Becker Muscular Dystrophy: Correlation of Severity With Type of Deletion

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Free PMC article
Comparative Study

The Molecular Basis for Duchenne Versus Becker Muscular Dystrophy: Correlation of Severity With Type of Deletion

M Koenig et al. Am J Hum Genet. .
Free PMC article

Abstract

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 phenotype and type of deletion mutation is in agreement with the "reading frame" theory in 92% of cases and is of diagnostic and prognostic significance. 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.

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References

    1. Hum Genet. 1987 Mar;75(3):221-7 - PubMed
    1. Cell. 1987 Jul 31;50(3):509-17 - PubMed
    1. Nature. 1987 Jul 30-Aug 5;328(6129):434-7 - PubMed
    1. Lancet. 1987 Dec 5;2(8571):1294-7 - PubMed
    1. Science. 1988 Jan 29;239(4839):487-91 - PubMed

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