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Article

Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?

PloS one - 1 Jan 2013

Biswas Subrata, DiSilvestre Deborah A, Dong Peihong, Tomaselli Gordon F

Abstract excerpt

Mutations in the cytoplasmic tail (CT) of voltage gated sodium channels cause a spectrum of inherited diseases of cellular excitability, yet to date only one mutation in the CT of the human skeletal muscle voltage gated sodium channel (hNaV1.4F1705I) has been linked to cold aggravated myotonia. The functional effects of altered regulation of hNaV1.4F1705I are incompletely understood. The location of the...

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Identifiers

PMID: 24324661
DOI: 10.1371/journal.pone.0081063
PMCID: PMC3855693

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Source receipt: pubmed, retrieved 7 Sept 2026.

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