Disease: Paramyotonia Congenita (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE While five patients had a clinical diagnosis of myotonia congenita, the patient with the F428S mutation exhibited symptoms characteristic of paramyotonia congenita--a condition usually thought to be caused by mutations in the sodium channel gene SCN4A. 12390967 2002
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE We report a phenotype associated with the Val1589Met substitution in SCN4A gene in a French family which would be better classified as paramyotonia congenita. 16624558 2006
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease UNIPROT We have now established that SCN4A is the disease gene in PMC by identifying two different single-base coding sequence alterations in PMC families. 1310898 1992
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 Biomarker disease BEFREE We have now established that SCN4A is the disease gene in PMC by identifying two different single-base coding sequence alterations in PMC families. 1310898 1992
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE We have applied these polymorphisms to the investigation of hyperkalemic periodic paralysis and paramyotonia congenita, distinct neuromuscular disorders both of which are thought to involve mutation at SCN4A. 1315122 1992
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE Twenty-eight different SCN4A missense mutations (including three novel mutations) were identified in paramyotonia congenita/sodium channel myotonia, hypokalemic periodic paralysis and hyperkalemic periodic paralysis. 29606556 2018
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE 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 1999
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease UNIPROT 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 1999
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GermlineCausalMutation disease ORPHANET 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 1999
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease UNIPROT This study identifies two new mutations, confirms SCN4A as a common cause of paramyotonia congenita in the UK, and suggests further allelic and possibly genetic heterogeneity. 18166706 2008
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE This study identifies two new mutations, confirms SCN4A as a common cause of paramyotonia congenita in the UK, and suggests further allelic and possibly genetic heterogeneity. 18166706 2008
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE This case demonstrates that SCN4A Arg1448Cys can produce paralysis periodica paramyotonica. 16801039 2006
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE They are caused by mutations in either the CLCN1 gene in myotonia congenita or in the SCN4A gene in paramyotonia congenita and sodium channel myotonias. 25088311 2014
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease UNIPROT These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica.Some proteins can mislocate in the TAs. 19077043 2009
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica.Some proteins can mislocate in the TAs. 19077043 2009
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE These diseases can not be simply distinguished only based on symptoms and signs but also on genetics: more than 100 mutations in the CLCN1 gene have been associated with MC, while at least 20 mutations in the SCN4A gene have been associated with PC and SCM. 27415035 2017
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE The present eighteen PC families exhibit two different mutations (R1448C and R1448H) on various SCN4A dinucleotide repeat haplotypes and therefore the majority of the mutations probably occurred independently. 8005599 1994
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 Biomarker disease BEFREE The gene encoding the principal voltage-dependent sodium channel expressed in adult human skeletal muscle (SCN4A) has recently been linked to the pathogenesis of human hyperkalemic periodic paralysis and paramyotonia congenita. 1315496 1992
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 Biomarker disease BEFREE The existence of a second gene different from SCN4A that can give rise to a clinical PC phenotype can be speculated upon. 10534266 1999
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease UNIPROT Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M. 15318338 2004
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family. 21665479 2011
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 12933953 2003
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE Our patient developed intermittent episodes of stridor quickly progressing to apnea shortly after birth that were marked by PVFM on laryngoscopy, ultimately leading to the diagnosis of a previously unrecognized mutation in SCN4A, the gene responsible for PC. 31382107 2019
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 GeneticVariation disease BEFREE Mutations within the voltage-gated sodium channel alpha-subunit gene (SCN4A) have been described in association with several phenotypes including paramyotonia congenita, hyperkalemic or hypokalemic periodic paralysis, and potassium-aggravated myotonias. 18203179 2008
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 Biomarker disease BEFREE Mutations in the skeletal muscle sodium channel gene (SCN4A) have been described in paramyotonia congenita (PMC) and hyperkalaemic periodic paralysis (HPP). 1338909 1992