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KMID : 1035220140060010012
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Korean Journal of Neuromuscular Disorders
2014 Volume.6 No. 1 p.12 ~ p.15
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Genetics of Autoimmune Myasthenia Gravis and Congenital Myasthenic Cyndrome
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Shin Jin-Hong
Kim Dae-Sung
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Abstract
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Myasthenia gravis (MG) is one of the most representative autoimmune diseases. It has long been speculated to have genetic predisposition, based on the increased prevalence of MG and other autoimmue disorders in the same family. Ancestral HLA haplotype, AH8.1, has been repeatedly reported in Cacausian population to be associated with MG and other autoimmune disorders, which are reproduced by GWAS data. Other genetic variants have also been described, though the cumulative risk is not sufficient to explain all the sporadic cases. On the contrary congenital myasthenic syndrome (CMS) is by distinctive genetic defects expressed in the neuromuscular junction. CMS might be less rare than we think it is, disguised as non-specific myopathy. Clinical awareness together with increasingly popular next generation sequencing technique will help diagnose CMS cases.
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KEYWORD
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Myasthenia gravis, HLA, Congenital myasthenic syndrome, Exome
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