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Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression. / Sloth, Christine K; Denti, Federico; Schmitt, Nicole; Bentzen, Bo Hjorth; Fagerberg, Christina; Vissing, John; Gaist, David.
In:
Neurology: Genetics, Vol. 4, No. 5, 10.2018, p. e267.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Sloth, CK, Denti, F
, Schmitt, N, Bentzen, BH, Fagerberg, C
, Vissing, J & Gaist, D 2018, '
Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression',
Neurology: Genetics, vol. 4, no. 5, pp. e267.
https://doi.org/10.1212/NXG.0000000000000267APA
Sloth, C. K., Denti, F.
, Schmitt, N., Bentzen, B. H., Fagerberg, C.
, Vissing, J., & Gaist, D. (2018).
Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression.
Neurology: Genetics,
4(5), e267.
https://doi.org/10.1212/NXG.0000000000000267Vancouver
Sloth CK, Denti F
, Schmitt N, Bentzen BH, Fagerberg C
, Vissing J et al.
Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression.
Neurology: Genetics. 2018 Oct;4(5):e267.
https://doi.org/10.1212/NXG.0000000000000267Author
Sloth, Christine K ; Denti, Federico ; Schmitt, Nicole ; Bentzen, Bo Hjorth ; Fagerberg, Christina ; Vissing, John ; Gaist, David. / Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression. In: Neurology: Genetics. 2018 ; Vol. 4, No. 5. pp. e267.
Bibtex
@article{c64a69c8633b4ecc84038a7ec5db5d29,
title = "Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression",
author = "Sloth, {Christine K} and Federico Denti and Nicole Schmitt and Bentzen, {Bo Hjorth} and Christina Fagerberg and John Vissing and David Gaist",
year = "2018",
month = oct,
doi = "10.1212/NXG.0000000000000267",
language = "English",
volume = "4",
pages = "e267",
journal = "Neurology: Genetics",
issn = "2376-7839",
publisher = "Wolters Kluwer Health",
number = "5",
}
RIS
TY - JOUR
T1 - Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression
AU - Sloth, Christine K
AU - Denti, Federico
AU - Schmitt, Nicole
AU - Bentzen, Bo Hjorth
AU - Fagerberg, Christina
AU - Vissing, John
AU - Gaist, David
PY - 2018/10
Y1 - 2018/10
U2 - 10.1212/NXG.0000000000000267
DO - 10.1212/NXG.0000000000000267
M3 - Journal article
C2 - 30283817
VL - 4
SP - e267
JO - Neurology: Genetics
JF - Neurology: Genetics
SN - 2376-7839
IS - 5
ER -
