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Article

Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.

Biophysical journal - 1 Feb 1999

Takahashi M P, Cannon S C

Abstract excerpt

Over 20 different missense mutations in the alpha subunit of the adult skeletal muscle Na channel have been identified in families with either myotonia (muscle stiffness) or periodic paralysis, or both. The V445M mutation was recently found in a family with myotonia but no weakness. This mutation in transmembrane segment IS6 is novel because no other disease-associated mutations are in domain I. Na currents were...

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Identifiers

PMID: 9929487
DOI: 10.1016/S0006-3495(99)77249-8
PMCID: PMC1300087

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.PMID 9929487Read ↗

Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.Semantic proximity Read ↗

A C‐terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivationSemantic proximity Read ↗

Inactivation defects produced by a myopathic II-S6 mutation of the muscle sodium channel.Semantic proximity Read ↗

The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.Semantic proximity Read ↗

Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.Semantic proximity Read ↗

Slow inactivation in voltage-gated sodium channels: molecular substrates and contributions to channelopathies.Semantic proximity Read ↗

Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.Semantic proximity Read ↗

NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers.Semantic proximity Read ↗

Activation and Inactivation of the Voltage-Gated Sodium Channel: Role of Segment S5 Revealed by a Novel Hyperkalaemic Periodic Paralysis MutationSemantic proximity Read ↗

Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel.Semantic proximity Read ↗

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker.Semantic proximity Read ↗

Role in fast inactivation of conserved amino acids in the IV/S4-S5 loop of the human muscle Na+ channel.Semantic proximity Read ↗

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