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- Title
Molecular Diagnostic Testing in Charcot-Marie-Tooth Disease and Related Disorders: Approaches and Results.
- Authors
JONGHE, P.; NELIS, E.; TIMMERMAN, V.; LÖFGREN, A.; MARTIN, J-J.; VAN BROECKHOVEN, C.
- Abstract
ABSTRACT: 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.
- Publication
Annals of the New York Academy of Sciences, 1999, Vol 883, Issue 1, p389
- ISSN
0077-8923
- Publication type
Article
- DOI
10.1111/j.1749-6632.1999.tb08600.x