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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results.

The inherited neuropathies of the peripheral nervous system are clinically and genetically a heterogeneous group of disorders. Molecular genetic studies have made major breakthroughs in unraveling the underlying gene defects, and DNA diagnosis can now be offered to a large number of families with distinct forms of hereditary peripheral neuropathies. With the currently available technology, however, molecular genetic diagnosis still remains a labor-intensive and costly procedure. We have developed an algorithm for mutation screening based on clinical phenotype, electrophysiological findings, and the relative frequencies of mutations in the distinct peripheral myelin genes.[1]

References

  1. Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results. De Jonghe, P., Nelis, E., Timmerman, V., Löfgren, A., Martin, J.J., Van Broeckhoven, C. Ann. N. Y. Acad. Sci. (1999) [Pubmed]
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