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January 1, 1993Human Molecular Genetics

A novel SCN4A mutation causing myotonia aggravated by cold and potassium

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Population

A family with myotonia aggravated by cold, potassium loading and suxamethonium, but without muscle weakness…

Design

Case_series

Authors

RHRoland HeineUniversität UlmUPUrsula PlkaUniversität UlmFLFrank Lehmann‐HornUniversität Ulm

Discussion

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Implication

Broadens SCN4A spectrum in cold- and potassium-aggravated myotonia; leaves open pathogenicity and clinical utility pending validation.

Structured PICO

P
Population
A family with myotonia aggravated by cold, potassium loading and suxamethonium, but without muscle weakness, and six families with the myotonic, non-dystrophic form of hyperkalemic periodic paralysis.
I
Intervention
Genetic screening using single strand conformation polymorphism (SSCP) and DNA sequencing
O
Outcome
Identification of genetic mutations in the SCN4A genesurrogate

Identifies a novel V1589M mutation in the SCN4A gene responsible for a specific form of myotonia aggravated by cold and potassium.

Cite This Study

Heine et al. (1993) studied this question.

synapsesocial.com/papers/6a707fca26770c2b8de091bahttps://doi.org/10.1093/hmg/2.9.1349
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Also Consider

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

  1. 1A new mutation in a family with cold-aggravated myotonia disrupts Na + channel inactivation2001 · 38 citations
  2. 2A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity1997 · 83 citations
  3. 3A novel dominant mutation of the Na v 1.4 α-subunit domain I leading to sodium channel myotonia2008 · 24 citations
  4. 4Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III‐IV linker.1993 · 210 citations
  5. 5A C‐terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation2005 · 45 citations