Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands.

B C Stunnenberg,J Raaphorst,J C W Deenen,T P Links, A A Wilde, D J Verbove,E J Kamsteeg,A van den Wijngaard,C G Faber,G J van der Wilt,B G M van Engelen,G Drost,H B Ginjaar

Neuromuscular Disorders（2018）

引用 38|浏览55

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摘要

•Prevalence estimates of skeletal muscle channelopathies in the Netherlands.•Mutation spectrum of underlying gene defects in SCN4A, CLCN1, CACNA1S and KCNJ2.•Results are discussed and compared with published nationwide prevalence studies.

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关键词

Skeletal muscle channelopathies,Non-dystrophic myotonia,Periodic paralysis,Prevalence,Netherlands

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