| 1 | PMC, SCN4A
|
| Permanent myopathy caused by mutation of SCN4A Metl592Val: Observation on myogenesis in vitro and on effect of basic fibroblast growth factor on the muscle.
|
| Feng Y, Wang H, Luo XG, Ren Y.
|
| Neurosci Bull 25(2):61-6.
2009
|
| 2 | CLCN1, MCB, MCT, PMC, SCN4A
|
| In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
|
| Trip J, Drost G, Verbove DJ, van der Kooi AJ, Kuks JB, Notermans NC, Verschuuren JJ, de Visser M, van Engelen BG, Faber CG, Ginjaar IB.
|
| Eur J Hum Genet 16(8):921-9. Epub 2008 Mar 12.
2008
|
| 3 | SCN4A, PMC
|
| Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.
|
| Gay S, Dupuis D, Faivre L, Masurel-Paulet A, Labenne M, Colombani M, Soichot P, Huet F, Hainque B, Sternberg D, Fontaine B, Gouyon JB, Thauvin-Robinet C.
|
| Am J Med Genet A 146(3):380-3. 2008
|
| 4 | PMC, SCN4A
|
| A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.
|
| Schoser BG, Schröder JM, Grimm T, Sternberg D, Kress W.
|
| Muscle Nerve 35(5):599-606.
2007
|
| 5 | PMC, SCN4A
|
| A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.
|
| Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire MJ, Chrestian N, Dupré N, Puymirat J, Brais B.
|
| Neurology 69(20):1937-41.PMID: 17998485 2007
|
| 6 | SCN4A, PMC
|
| A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.
|
| Ferriby D, Stojkovic T, Sternberg D, Hurtevent JF, Hurtevent JP, Vermersch P.
|
| Neuromuscul Disord 16(5):321-4. Epub 2006 Apr 19. 2006
|
| 7 | HYKPP, PMC, SCN4A
|
| New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
|
| Vicart S, Sternberg D, Fournier E, Ochsner F, Laforet P, Kuntzer T, Eymard B, Hainque B, Fontaine B.
|
| Neurology 63(11):2120-7. 2004
|
| 8 | PMC, SCN4A
|
| A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
|
| Sasaki R, et al.
|
| Arch Neurol 56(6):692-6. 1999
|
| 9 | HYKPP, PMC, SCN4A
|
| Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit-a large kindred with a novel phenotype.
|
| Kelly P, et al.
|
| Neuromuscul Disord 7 : 105-111. 1997
|
| 10 | PMC, SCN4A
|
| C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg)--correlations with clinical, neurophysiological and muscle biopsy data.
|
| Borg K, Ahlberg G, Anvret M.
|
| Neuromuscul Disord 7(4):231-3. 1997
|
| 11 | HYKPP, PMC, SCN4A
|
| A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.
|
| Wagner S, Lerche H, Mitrovic N, Heine R, George AL, Lehmann-Horn F.
|
| Neurology 49(4):1018-25. 1997
|
| 12 | PMC, SCN4A
|
| Paramyotonia congenita : the R1448P Na+ channel mutation in adult human skeletal muscle.
|
| Lerche H, et al.
|
| Ann Neurol 39 : 599-608. 1996
|
| 13 | PMC, SCN4A
|
| A skeletal muscle sodium channel mutation in a Japanese family with paramyotonia congenita.
|
| Yamada T, et al.
|
| J Neurol Sci 133 : 192-193. 1995
|
| 14 | PMC
|
| Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.
|
| Meyer-Kleine C, et al.
|
| Hum Genet 93 : 707-710. 1994
|
| 15 | PMC, SCN4A
|
| Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation.
|
| Tahmoush AJ, et al.
|
| Neuromuscul Disord 4 : 447-454. 1994
|
| 16 | HYKPP, PMC, SCN4A
|
| Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.
|
| Rdel R, et al.
|
| Arch Neurol 50 : 1241-1248. 1993
|
| 17 | SCN4A, PMC
|
| A novel SCN4A mutation causing myotonia aggravated by cold and potassium.
|
| Heine R, et al.
|
| Hum Mol Genet 2 : 1349-1353. 1993
|
| 18 | PMC
|
| Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.
|
| McClatchey AI, et al.
|
| Cell 68 : 769-774. 1992
|
| 19 | SCN4A, HYKPP, PMC, MCR
|
| Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
|
| McClatchey AI, et al.
|
| Nat Genet 2 : 148-152. 1992
|
| 20 | PMC, HYKPP, SCN4A
|
| Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.
|
| Koch MC, et al.
|
| Hum Genet 88 : 71-74. 1991
|