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

doi:10.1016/j.nmd.2018.03.006

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

22 Citations (Web of Science)

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Original language	English
Pages (from-to)	402-407
Number of pages	6
Journal	Neuromuscular Disorders
Volume	28
Issue number	5
DOIs	https://doi.org/10.1016/j.nmd.2018.03.006
Publication status	Published - 1 May 2018

Keywords

Skeletal muscle channelopathies
Non-dystrophic myotonia
Periodic paralysis
Prevalence
Netherlands
HYPOKALEMIC PERIODIC PARALYSIS
ANDERSEN-TAWIL-SYNDROME
CLCN1 MUTATIONS
MYOTONIA-CONGENITA
FAMILIES
PHENOTYPE
DUTCH

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Cite this

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, 28(5), 402-407. https://doi.org/10.1016/j.nmd.2018.03.006

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. / Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. In: Neuromuscular Disorders. 2018 ; Vol. 28, No. 5. pp. 402-407.

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title = "Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands",

keywords = "Skeletal muscle channelopathies, Non-dystrophic myotonia, Periodic paralysis, Prevalence, Netherlands, HYPOKALEMIC PERIODIC PARALYSIS, ANDERSEN-TAWIL-SYNDROME, CLCN1 MUTATIONS, MYOTONIA-CONGENITA, FAMILIES, PHENOTYPE, DUTCH",

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

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day = "1",

doi = "10.1016/j.nmd.2018.03.006",

language = "English",

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Stunnenberg, BC, Raaphorst, J, Deenen, JCW, Links, TP, Wilde, AA, Verbove, DJ, Kamsteeg, EJ, van den Wijngaard, A, Faber, CG, van der Wilt, GJ, van Engelen, BGM, Drost, G & Ginjaar, HB 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

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

In: Neuromuscular Disorders, Vol. 28, No. 5, 01.05.2018, p. 402-407.

Research output: Contribution to journal › Article › Academic › peer-review

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AU - Raaphorst, J.

AU - Deenen, J. C. W.

AU - Links, T. P.

AU - Wilde, A. A.

AU - Verbove, D. J.

AU - Kamsteeg, E. J.

AU - van den Wijngaard, A.

AU - Faber, C. G.

AU - van der Wilt, G. J.

AU - van Engelen, B. G. M.

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AU - Ginjaar, H. B.

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KW - Non-dystrophic myotonia

KW - Periodic paralysis

KW - Prevalence

KW - Netherlands

KW - HYPOKALEMIC PERIODIC PARALYSIS

KW - ANDERSEN-TAWIL-SYNDROME

KW - CLCN1 MUTATIONS

KW - MYOTONIA-CONGENITA

KW - FAMILIES

KW - PHENOTYPE

KW - DUTCH

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DO - 10.1016/j.nmd.2018.03.006

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VL - 28

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JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

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