Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression

Christine K Sloth; Federico Denti; Nicole Schmitt; Bo Hjorth Bentzen; Christina Fagerberg; John Vissing; David Gaist

doi:10.1212/NXG.0000000000000267

Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression

Christine K Sloth, Federico Denti, Nicole Schmitt, Bo Hjorth Bentzen, Christina Fagerberg, John Vissing, David Gaist

27 Downloads (Pure)

Original language	English
Journal	Neurology: Genetics
Volume	4
Issue number	5
Pages (from-to)	e267
Number of pages	3
ISSN	2376-7839
DOIs	https://doi.org/10.1212/NXG.0000000000000267
Publication status	Published - Oct 2018

Access to Document

10.1212/NXG.0000000000000267Licence: CC BY-NC-ND

Homozygosity-e267.fullFinal published version, 409 KBLicence: CC BY-NC-ND

Cite this

@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",

}

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

SN - 2376-7839

VL - 4

SP - e267

JO - Neurology: Genetics

JF - Neurology: Genetics

IS - 5

ER -