ArticleIranian journal of neurology2015
Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.
Article in Iranian journal of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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Who cites it
1 citing paper in PubMed, 5 citations in OpenAlex.
- Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations inFrontiers in neurology · 2020Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
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Abstract
backgroundNon-dystrophic myotonias are a heterogeneous set of skeletal, muscular channelopathies, which have been associated with point mutations within sodium channel α-subunit (SCN4A) gene. Because exons 22 and 24 of SCN4A gene are recognized as hot spots for this disease, the purpose of the study is to identify mutation in exons 22 and 24 of SCN4A gene in Iranian non-dystrophic myotonias patients.
methodsIn this study, 28 Iranian patients with non-dystrophic myotonia analyzed for the mutation scanning in exons 22 and 24 of SCN4A gene by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and sequencing.
resultsWe found 29073G>C substitution in SCN4A gene in one case and 31506A>G substitution in seven cases. The 29073G>C substitution causes a missense mutation G1306A, located in the conserved cytoplasmic loop connecting repeat III and IV of the SCN4A channel but, 31506A>G substitution do not alter amino acid in SCN4A protein.
conclusionG1306A residue is located in functionally important protein region. In "hinged-lid model" for Na(+) channel inactivation in which glycines(1306) act as the hinge of the lid occluding the channel pore. Mutation in this region slowed fast inactivation. Therefore, it might be a pathogenic mutation. The causal relationship of this mutation with the disease is an object for further discussion.
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26885337PMC4754597W2173340260What OpenQuestion holds
Registered trials
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