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Charcot Marie Tooth Disease
Title: Charcot Marie Tooth Disease
Category: Science & Technology
Details: Words: 2457 | Pages: 10.5 (approximately 235 words/page)
Charcot Marie Tooth Disease
Charcot-Marie-Tooth Disorder
Charcot-Marie-Tooth Disorder (CMT) is the most common type of hereditary motor and sensory neuropathy (HMSN), occurring in one of every 2500 births. The mean age of onset of clinical symptoms is 12.2 7.3 years. Severity of the disorder varies among the individual and among the subtypes of CMT. Subtypes are distinguishable by testing the nerve conduction velocity (NCV), muscle biopsies, and protein levels in cerebrospinal fluid. Three different subtypes have been identified, fittingly called CMT I, …showed first 75 words of 2457 total…
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…showed last 75 words of 2457 total…and Related Inherited
Neuropathies. Medicine 75, 233-250.
Roa, B. B., et. al. (1996). Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy. Human Genetics 97, 642-649.
Rosenberg, Roger N., and Susan T. Iannaccone (1995). The prevention of Neurogenetic Disease. Archives of Neurology 52, 356-362.
Valentijn, Linda J., and Frank Bass (1998). Genetic Basis of Peripheral Neuropathies. Progress in Brain Research 117, 249-264.
Warner, Laura E. et al. (1999) Hereditary Peripheral Neuropathies: Clinical Forms, Genetics, and Molecular Mechanisms. Annual Review of Medicine 50, 263-275.
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