Article

Identification of Novel Mutations of the CLCN-1 and SCN4A Genes in Non-dystrophic Myotonia in China

2021-01-18

Abstract excerpt

<h4>Background: </h4> : The aim of our study was to characterize the genetic, pathological and clinical alterations of 17 patients in China presenting with non-dystrophic myotonia (NDM). <h4>Methods: </h4>: We first sequenced the CLCN-1 gene in patients having clinical features and muscle pathology indicative of NDM. If no mutations were detected , we subsequently analyzed the SCN4A , KCNE3 and CACNA1S genes. Resu...

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Literature Corpus work: 886e2e6f-c00b-5827-bb0b-1f4dc09b41fd
DOI: 10.21203/rs.3.rs-143997/v1

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