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ovel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis 被引量:1

ovel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis
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摘要 Myotonia congenita (MC) is a group of genetically and clinically heterogeneous congenital neuromuscular channelopathies, typically characterized by the delayed relaxation of the muscles after voluntary contraction, stifthess, hypertrophy, transient weakness, and cramping. Myotonia congenita (MC) is a group of genetically and clinically heterogeneous congenital neuromuscular channelopathies, typically characterized by the delayed relaxation of the muscles after voluntary contraction, stifthess, hypertrophy, transient weakness, and cramping.
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2018年第4期477-479,共3页 中华医学杂志(英文版)
基金 This work was supported by grants from the National Natural Science Foundation of China (No. 81571086 and No. 81600978) and National Key R and D Program of China (No. 2016YFC1305804).
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