Neuromuscular disorders : NMD
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Neuromuscul. Disord. · Aug 2013
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population.
Charcot-Marie-Tooth (CMT) neuropathies belong to the most common neurogenetic disorders. To date, mutations in more than 40 genes are known to be able to cause CMT. This genetic heterogeneity is a challenge for genetic diagnostics. ⋯ Overall, the genetic clearance rate in our patient cohort was 58%. We found a higher rate of genetic diagnosis in patients seen in our neuromuscular center compared to out-of-clinic patients whose DNA was tested in our laboratory. This study provides further data on frequencies of CMT genes and subtypes and points to the importance of a thorough clinical and electrophysiological work-up for the direction of genetic testing.