rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.
|
20076800 |
2009 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.
|
19077043 |
2009 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
|
18166706 |
2008 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.
|
18690054 |
2008 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Cold extends electromyography distinction between ion channel mutations causing myotonia.
|
16786525 |
2006 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.
|
15790667 |
2005 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.
|
15318338 |
2004 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.
|
10727489 |
2000 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
|
10369308 |
1999 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).
|
8580427 |
1995 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel SCN4A mutation causing myotonia aggravated by cold and potassium.
|
8242056 |
1993 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.
|
8388676 |
1993 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.
|
8308722 |
1993 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.
|
1316765 |
1992 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
|
1338909 |
1992 |
rs80338958
|
|
Paramyotonia Congenita (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.
|
1310898 |
1992 |