Article
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.
The Lancet. Neurology - 1 Jul 2009
Pareyson Davide, Marchesi Chiara
Abstract excerpt
Charcot-Marie-Tooth disease is the most common inherited neuromuscular disorder. There have been substantial advances in elucidating the molecular bases of this genetically heterogeneous neuropathy and, in most cases, molecular diagnosis is now possible. The diagnostic approach requires careful assessment of clinical presentation and mode of inheritance, nerve-conduction studies, and DNA testing, and current...
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