Article

Analysis of a rare pathogenic variant of the SCN4A gene (c.4307T>C, L1436P): from clinic to patch-clamp

2025-04-08

Abstract excerpt

<title>Abstract</title> <p>We report nine index cases with a rare mutation in the <italic>SCN4A</italic> gene, NM_000334.4(<italic>SCN4A</italic>).4307T > C (p.Leu1436Pro), which codes for the muscle Na<sub>v</sub>1.4 channel. Patients were evaluated clinically and by an electrodiagnostic study. In addition, the biophysical characteristics of the mutant channels were compared to those of wild type channels and a...

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Literature Corpus work: 3bb2ad4f-0e9d-5c38-99ed-083eedc77473
DOI: 10.21203/rs.3.rs-6382511/v1

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