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KMID : 1189120070040020115
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대한의학유전학회지
2007 Volume.4 No. 2 p.115 ~ p.121
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DNA diagnostic testing in hereditary motor and sensory neuropathis
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Abstract
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Hereditary motor and sensory neuropathy (HMSN ; Charcot-Marie-Tooth disease, CMT) was first described by Charcot and Marie in France and, independently, by Tooth in England in 1886. HMSN is the most common form of inherited motor and sensory neuropathy, and is a genetically heter ogeneous disorder of the peripheral nervous system. Usi ng positi onal cl oni n9 methods, the chromosomal 1 ocal izati on (1 ocus) of more than 40 inherited peripheral neuropathies was found in the last 15 years. However, these genetic analyses also show that many entities do not show llnkage to the known loci. Thls issue deals wlth a clinical survey of inherited peripheral neuropathies regarding diagnostic approaches based on the molecular findings.
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KEYWORD
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HMSN, Charcot-Marie-Tooth disease, Gene, Diagnosis
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