Article
[Different phenotypes of Charcot-Marie-Tooth disease caused by mutations in the same gene. Are classical criteria for classification still valid?].
Neurologia (Barcelona, Spain) - 1 Jun 2004
Sevilla T, Vílchez J J
Abstract excerpt
Molecular genetic research is leading to the continuous discovery of new genes and protein involved in peripheral nerves function. Simultaneously, extended clinical, neurophysiological and pathological research has yielded new genotype-phenotype correlation on Charcot-Marie-Tooth disease (CMT). This has made it possible to know that several genes can cause both demyelinating (CMT1) and axonal (CMT2) phenotypes....
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