Article
Charcot-Marie-Tooth disease variants-classification, clinical, and genetic features and rational diagnostic evaluation.
Journal of clinical neuromuscular disease - 1 Mar 2014
Bassam Bassam A
Abstract excerpt
Inherited neuropathies are among the most prevalent inherited neurologic disorders, and with current advances in molecular biology and genetic testing, the clinical spectrum of phenotype/genotype has been expanding enormously. Genetic testing is nowadays commercially available to several subtypes although many remain because of unknown genetic defect. A stepwise rational approach, which is shown in , facilitates...
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