Muscular Dystrophies

Abstract

The identification of the many genes involved in producing a muscular dystrophy phenotype has highlighted the complex molecular pathology of this group of diseases. Genetic and phenotypic heterogeneity is the norm, with mutations now described in proteins involved in many areas of key function in skeletal muscle, including proteins of the muscle fiber membrane, extracellular matrix, nuclear envelope and sarcomere.

Keywords: dystrophin; plasma membrane; extracellular matrix; sarcomere; nuclear envelope

Figure 1.

Schematic diagram of the muscle fiber highlighting the roles of some of the key proteins involved in muscular dystrophy. FKRP: fukutin‐related protein.

Figure 2.

Localization in and around the muscle fiber membrane of some of the proteins associated with muscular dystrophies. (Courtesy of Dr L. V. B. Anderson, University of Newcastle upon Tyne, UK.)

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References

Bashir R, et al. (1998) A gene related to Caenorhabditis elegans spermatogenesis factor fer‐1 is mutated in LGMD type 2B. Nature Genetics 20: 37–42.

Cohn RD and Campbell KP (2000) Molecular basis of muscular dystrophies. Muscle & Nerve 23: 1456–1471.

Engelman JA, et al. (1998) Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimers disease and muscular dystrophy. American Journal of Human Genetics 65: 1578–1587.

Goll DE, Thompson VF, Taylor RG, Ouali A and Cnow R‐GR (1999) The calpain system in muscle tissue. In: Wang KKW and Yuen PW (eds.) Calpain: Pharmacology and Toxicology of Calcium‐dependent Protease, pp. 127–160. New York, NY: Taylor and Francis

Hoffman EP, et al. (1987) Dystrophin: the protein product of DMD locus. Cell 51: 919–928.

Manilal S, et al. (1999) Distribution of emerin and lamins in the heart and implications for Emery Dreifuss muscular dystrophy. Human Molecular Genetics 8(2): 353–359.

Myllyharju J, et al. (2001) Collagen and collagen‐related diseases. Annals of Medicine 33: 7–21.

Sewry CA and Muntoni F (1999) Inherited disorders of the extracellular matrix. Current Opinion in Neurology 12(5): 519–526.

Straub V and Campbell KP (1997) Muscular dystrophies and the dystrophin–glycoprotein complex. Current Opinion in Neurology 10: 168–175.

Tome FMS, Guicheney P and Fardeau M (1998) Congenital muscular dystrophies. In: Emery AEH (ed.) Neuromuscular Disorders: Clinical and Molecular Genetics, pp. 21–57. Chichester, UK: Wiley

Further Reading

Bushby KMD and Anderson LVB (eds.) (2001) Muscular Dystrophy; Methods and Protocols Totowa, NJ: Humana Press.

Emery AEH (ed.) (1998) Neuromuscular Disorders: Clinical and Molecular Genetics. Chichester, UK: Wiley.

Karpati G, Hilton‐Jones D and Griggs R (eds.) (2001) Disorders of Voluntary Muscle, 7th edn Cambridge, UK: Cambridge University Press.

Muntoni F, Bertini E, Bonneman C, et al. (2002) 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD). Neuromuscular Disorders 12(9): 889–896.

Pepe G, Bertini E, Bonaldo P, et al. (2002) Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, Naarden, The Netherlands. Neuromuscular Disorders 12: 984–993.

Udd B, Bushby K, Nonaka I and Griggs R (2002) 104th European Neuromuscular Centre (ENMC) International Workshop: distal myopathies. Neuromuscular Disorders 12: 897–904.

For up to date reviews of the state of the art in the various muscular dystrophy types see European Neuromuscular Centre (ENMC) Workshop Reports on Congenital muscular dystrophies, Distal myopathies and Limb‐girdle muscular dystrophies in Neuromuscular Disorders.

Web Links

Leiden Muscular Dystrophy pages http://www.dmd.nl

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How to Cite close
Bushby, Kate(Jan 2006) Muscular Dystrophies. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006030]