Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands
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 (CLCNJ, SCN4A, CACNAIS and KCNJ2 gene mutations) in the Netherlands (1990-2015) divided by the total number of at-risk individuals. Rates were expressed as cases/100.000 and 95% confidence intervals were calculated based on Poisson distribution. Re... Mehr ...
| Verfasser: |
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. |
| Dokumenttyp: |
Artikel |
| Erscheinungsdatum: |
2018 |
| Reihe/Periodikum: |
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 2018 , ' Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands ' , Neuromuscular Disorders , vol. 28 , no. 5 , pp. 402-407 . https://doi.org/10.1016/j.nmd.2018.03.006 |
| Schlagwörter: |
Skeletal muscle channelopathies
/ Non-dystrophic myotonia
/ Periodic paralysis
/ Prevalence
/ Netherlands
/ HYPOKALEMIC PERIODIC PARALYSIS
/ ANDERSEN-TAWIL-SYNDROME
/ CLCN1 MUTATIONS
/ MYOTONIA-CONGENITA
/ FAMILIES
/ PHENOTYPE
/ DUTCH |
| Sprache: |
Englisch |
| Permalink: |
https://search.fid-benelux.de/Record/base-27205889 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
|
https://cris.maastrichtuniversity.nl/en/publications/2a8a354a-a09d-4e5e-9a11-8fbf0e21b98e |
