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Genotype/phenotype correlations in Duchenne/Becker dystrophy

  • Chapter
Molecular and Cell Biology of Muscular Dystrophy

Part of the book series: Molecular and Cell Biology of Human Diseases Series ((Mol. Cell Biol. Hu. Dis.))

Abstract

Genotype/phenotype correlations in Duchenne/Becker muscular dystrophy can be attempted at many levels: molecular genetics (dystrophin gene mutations), biochemistry (dystrophin protein abnormalities), cell biology (muscle fibre dysfunction), tissue physiology (muscle dysfunction and pathology), and clinical phenotype (disease presentation and progression). In many ways, Duchenne/Becker dystrophy represents an ideal genetic disorder in which to make such correlations (Table 2.1). The plethora of mutations of the massive and complex dystrophin gene are known to cause a dramatic range of clinical disorders, and the X-linked recessive expression enables study of solitary loss-of-function or change-of-function mutations in hemizygous males, and in the mosaic situation caused by X-inactivation in heterozygous females.

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  1. Eric P. Hoffman
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  1. Charing Cross & Westminster Medical School, University of London, UK

    Terence Partridge

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Hoffman, E.P. (1993). Genotype/phenotype correlations in Duchenne/Becker dystrophy. In: Partridge, T. (eds) Molecular and Cell Biology of Muscular Dystrophy. Molecular and Cell Biology of Human Diseases Series. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-1528-5_2

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  • DOI: https://doi.org/10.1007/978-94-011-1528-5_2

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