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Disease name
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Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita of Von Eulenburg
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Marker gene
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Gene symbol
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Chromosome location
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Protein name
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SCN4A
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17q23.3 |
Sodium channel protein type 4 subunit alpha |
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Prevalence
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미상 |
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Inheritance
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상염색체 우성 |
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Age of onset
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청소년기, 초기 성인기 |
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ICD 10 code
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G71.1 |
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MIM number
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168300
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Synonym
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Paramyotonia congenita |
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Summary
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Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3). |
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