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Article

Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis.

Chinese medical journal - 20 Feb 2018

Xu Yang-Qi, Liu Xiao-Li, Huang Xiao-Jun, Tian Wo-Tu, Tang Hui-Dong, Cao Li

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Identifiers

PMID: 29451154
DOI: 10.4103/0366-6999.225061
PMCID: PMC5830834

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A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.Semantic proximity Read ↗

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