Article
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
Neuromolecular medicine - 1 Jan 2006
Pareyson D, Scaioli V, Laurà M
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of disorders sharing the same clinical phenotype, characterized by distal limb muscle wasting and weakness, usually with skeletal deformities, distal sensory loss, and abnormalities of deep tendon reflexes. Mutations of genes involved in different functions eventually lead to a length-dependent axonal degeneration, which is the likely basis of...
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