Variant: rs121908549 

    present in Gene: SCN4A
    present in Chromosome: 17
    Position on Chromosome: 63945602
    Alleles of this Variant: T/C

rs121908549 in SCN4A gene and Potassium aggravated myotonia PMID 18203179 2008 Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

PMID 20076800 2009 Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.

PMID 19015483 2008 A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.

PMID 16832098 2006 Autosomal dominant monosymptomatic myotonia permanens.

PMID 27653901 2016 A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.

PMID 19347921 2009 New mutation of the Na channel in the severe form of potassium-aggravated myotonia.

PMID 9392583 1997 A novel muscle sodium channel mutation causes painful congenital myotonia.

PMID 17998485 2007 A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.

PMID 8058156 1994 Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

PMID 10218481 1999 Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.

PMID 18337100 2009 Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

PMID 17212350 2007 A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.

PMID 16786525 2006 Cold extends electromyography distinction between ion channel mutations causing myotonia.