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

Research output: Contribution to journalJournal articleResearchpeer-review

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Original languageEnglish
Article numbere267
JournalNeurology: Genetics
Volume4
Issue number5
Number of pages4
ISSN2376-7839
DOIs
Publication statusPublished - Oct 2018

Cite this

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.
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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",
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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, e267, 10.2018.

Research output: Contribution to journalJournal articleResearchpeer-review

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

JO - Neurology: Genetics

JF - Neurology: Genetics

SN - 2376-7839

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M1 - e267

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