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

Afdeling for Hjerne- og Nervesygdomme NEU

Originalsprog	Engelsk
Tidsskrift	Neurology. Genetics
Vol/bind	4
Udgave nummer	5
Sider (fra-til)	e267
ISSN	2376-7839
DOI	https://doi.org/10.1212/NXG.0000000000000267
Status	Udgivet - okt. 2018

Adgang til dokumentet

10.1212/NXG.0000000000000267

Citationsformater

@article{665c0cc308544c74abb1b7cbf03393c1,

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 -