References

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The disorders discussed in this chapter have been characterized by several generations of clinicians and scientists according to clinical presentation and muscle and nerve histochemistry and electrophysiology. With the application of molecular biology techniques starting in the mid-1980s, the door has opened to understanding these diseases at the molecular level. Several of them are clearly monogenic in origin, such as Duchenne and Becker muscular dystrophy, whereas others, such as sporadic amyotrophic lateral sclerosis, most likely result from the interaction of several genes with environmental factors. Work is rapidly progressing in identifying genes and gene products and function, which will eventually lead to prophylactic as well as therapeutic intervention for these disorders.

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