IndraLab

Statements

SCN4A activates PMC. 5 / 5
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"PMC is caused by a mutation in SCN4A which encodes the alpha-subunit of the skeletal muscle sodium channel."
22507243
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"In addition, one member of the second family with overlapping symptoms has been identified as a novel mutation c.2111C > T without the mutation c.4343G > A. Conclusions: SCN4A gene mutations can cause the overlap of PMC and PP (especially the HypoPP2)."
30931713
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"Both dominant and recessive forms of myotonia congenita are caused by mutations in the CLCN1 gene XREF_BIBR whilst both PMC and SCM are caused by mutations in the SCN4A gene XREF_BIBR."
23810313
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"Paramyotonia congenita (PMC), sodium channel myotonia (SCM), and hyperkalemic periodic paralysis (HyperPP) are all caused by dominant gain-of-function variants in SCN4A (15)."
32670189
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"To date, 18 missense mutations in the adult skeletal muscle sodium channel alpha-subunit (SCN4A) gene have been identified to cause a spectrum of muscular diseases, including PMC of von Eulenburg, PMC without cold paralysis, potassium aggravating myotonia, and hyperkalemic periodic paralysis."
10369308