Article
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands.
Neuromuscular disorders : NMD - 1 May 2018
Stunnenberg B C, Raaphorst J, Deenen J C W, Links T P, Wilde A A, Verbove D J, Kamsteeg E J, van den Wijngaard A, Faber C G, van der Wilt G J, van Engelen B G M, Drost G, Ginjaar H B
Abstract excerpt
Few reliable data exist on the prevalence of skeletal muscle channelopathies. We determined the minimum point prevalence of genetically-defined skeletal muscle channelopathies in the Netherlands and report their mutation spectrum. Minimum point prevalence rates were calculated as number of genetically-confirmed skeletal muscle channelopathy patients (CLCN1, SCN4A, CACNA1S and KCNJ2 gene mutations) in the...
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