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KMID : 0860920120140020055
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Journal of the Korean Association EMG-Electrodiagnostic Medicine
2012 Volume.14 No. 2 p.55 ~ p.65
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Strategies for Diagnosis and Treatment of Charcot-Marie-Tooth Disease
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Park Jin-Mo
Choi Byung-Ok
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Abstract
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Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies and is a genetically and clinically heterogeneous disorder with variable inheritance modes. Classifications of CMT are divided into autosomal dominant inherited demyelinating (CMT1) and axonal (CMT2) neuropathies, Xlinked neuropathy (CMTX), and autosomal recessive inherited neuropathy (CMT4). More than 50 genes have been identified as CMT causative genes. And several molecules have been reported to have therapeutic effects on CMT, depending on the underlying genetic causes. So, exact genetic diagnostics have become very important for executing personalized therapy. Also, recent studies of induced pluripotent stem cells widened the possibility of patient-specific cell therapy, drug discovery, and disease modeling. This review focuses on the new strategies for diagnosis and treatment of Charcot-Marie-Tooth disease.
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KEYWORD
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Charcot-Marie-Tooth disease, Exome, Diagnosis, Therapy, Stem cell
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