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Items: 10

1.

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

Ptácek LJ, George AL Jr, Barchi RL, Griggs RC, Riggs JE, Robertson M, Leppert MF.

Neuron. 1992 May;8(5):891-7.

PMID:
1316765
2.

From mutation to myotonia in sodium channel disorders.

Cannon SC.

Neuromuscul Disord. 1997 Jun;7(4):241-9. Review.

PMID:
9196906
3.

Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.

Rüdel R, Ricker K, Lehmann-Horn F.

Arch Neurol. 1993 Nov;50(11):1241-8. Review.

PMID:
8215982
4.

The skeletal muscle sodium and chloride channel diseases.

Hudson AJ, Ebers GC, Bulman DE.

Brain. 1995 Apr;118 ( Pt 2):547-63. Review.

PMID:
7735894
5.

[Molecular genetics of sodium channel myopathies].

Ruscák J.

Bratisl Lek Listy. 1997 Dec;98(12):701-7. Review. Slovak.

PMID:
9525070
6.
7.

[A family of paramyotonia congenita].

Houzen H, Maruo Y, Moriwaka F, Tashiro K, Abe K.

Rinsho Shinkeigaku. 1993 Apr;33(4):452-4. Review. Japanese.

PMID:
8396519
8.

Ion channel mutations in periodic paralysis and related myotonic diseases.

Brown RH Jr.

Ann N Y Acad Sci. 1993 Dec 20;707:305-16. Review. No abstract available.

PMID:
9137561
9.

Phenotypic variability in myotonia congenita.

Colding-Jørgensen E.

Muscle Nerve. 2005 Jul;32(1):19-34. Review.

PMID:
15786415
10.

Paramyotonia congenita without cold paralysis: a case report.

Izumi Y, Fukuuchi Y, Koto A, Nakajima S.

Keio J Med. 1994 Jun;43(2):94-7. Review.

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