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May 1, 1996The Journal of General PhysiologyOpen Access

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

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Population

HEK cells expressing skeletal muscle Na+ channel alpha subunit with mutations at G1306 or T1313

Comparison

Missense mutations at G1306 or T1313 in the… vs Comparison between different mutation sites

Design

Preclinical

Authors

LHLawrence J. HaywardUniversity of Massachusetts Chan Medical SchoolRBRobert H. BrownBroad InstituteSCStephen C. CannonBoston University

Discussion

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Overview

May inform mutation-specific prognosis in channelopathies; extends animal models but leaves open human translation.

Structured PICO

P
Population
HEK cells expressing skeletal muscle Na+ channel alpha subunit with mutations at G1306 or T1313
I
Intervention
Missense mutations at G1306 or T1313 in the III-IV cytoplasmic loop
C
Comparator
Comparison between different mutation sites (G1306 vs T1313)
O
Outcome
Na+ channel inactivation properties (inactivation rates, steady-state inactivation, persistent Na+ currents, recovery from inactivation)surrogate

Functional differences in Na+ channel inactivation defects caused by specific mutations explain the distinct clinical phenotypes of myotonia with or without weakness.

Cite This Study

Hayward et al. (1996) studied this question.

synapsesocial.com/papers/6a6fc4e35671bbf00bc29abbhttps://doi.org/10.1085/jgp.107.5.559
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1K(+)‐aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation.1994 · 107 citations
  2. 2Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation1994 · 344 citations
  3. 3Genotype-Phenotype Correlations in Human Skeletal Muscle Sodium Channel Diseases1993 · 91 citations
  4. 4Sodium channel inactivation is impaired in equine hyperkalemic periodic paralysis1995 · 56 citations
  5. 5Purification and functional reconstitution of the voltage-sensitive sodium channel from rabbit T-tubular membranes.1985 · 88 citations