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Article

Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.

Proceedings of the National Academy of Sciences of the United States of America - 20 Dec 1994

Yang N, Ji S, Zhou M, Ptácek L J, Barchi R L, Horn R, George A L

Abstract excerpt

Mutations in the skeletal muscle voltage-gated Na+ channel alpha-subunit have been found in patients with two distinct hereditary disorders of sarcolemmal excitation: hyperkalemic periodic paralysis (HYPP) and paramyotonia congenita (PC). Six of these mutations have been functionally expressed in a heterologous cell line (tsA201 cells) using the recombinant human skeletal muscle Na+ channel alpha-subunit cDNA...

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Identifiers

PMID: 7809121
DOI: 10.1073/pnas.91.26.12785
PMCID: PMC45524

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