Summary

Representative neurologic and neuromuscular genetic disorders, the disease-causing mutations, and current molecular testing strategies were discussed. The ongoing progress of the Human Genome Project will undoubtedly identify additional genes involved in neurological function. Characterization of newly identified genes, further analysis of previously identified genes, and improved technologies will allow for the design of improved molecular diagnosis and the understanding of how and possibly what important modifying factors influence the correlation of genotype to phenotype

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