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.
De Jonghe
P
P
Department of Molecular Genetics, University of Antwerpen (UIA), Belgium, dejonghe@uia.ua.ac.be
Nelis
E
E
Timmerman
V
V
Löfgren
A
A
Martin
J J
JJ
Van Broeckhoven
C
C
D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods / Q000592:standards; D017408:Guidelines as Topic; D006801:Humans; D008297:Male; D009154:Mutation