Myopathy can be a key phenotype of membrin (GOSR2) deficiency

Mads G. Stemmerik; Josefine de S. Borch; Morten Dunø; Thomas Krag; John Vissing

doi:10.1002/humu.24247

Myopathy can be a key phenotype of membrin (GOSR2) deficiency

Mads G. Stemmerik^*, Josefine de S. Borch, Morten Dunø, Thomas Krag, John Vissing

^*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

3 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Human Mutation
Vol/bind	42
Udgave nummer	9
Sider (fra-til)	1101-1106
ISSN	1059-7794
DOI	https://doi.org/10.1002/humu.24247
Status	Udgivet - 2021

Adgang til dokumentet

10.1002/humu.24247

Citationsformater

@article{f618a9e9e62d4d5c80f58b6034b02935,

title = "Myopathy can be a key phenotype of membrin (GOSR2) deficiency",

keywords = "dystroglycans, GOSR2, muscular diseases, myoclonic epilepsies, SNARE proteins",

author = "Stemmerik, {Mads G.} and Borch, {Josefine de S.} and Morten Dun{\o} and Thomas Krag and John Vissing",

year = "2021",

doi = "10.1002/humu.24247",

language = "English",

volume = "42",

pages = "1101--1106",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "JohnWiley & Sons, Inc.",

number = "9",

}

TY - JOUR

T1 - Myopathy can be a key phenotype of membrin (GOSR2) deficiency

AU - Stemmerik, Mads G.

AU - Borch, Josefine de S.

AU - Dunø, Morten

AU - Krag, Thomas

AU - Vissing, John

PY - 2021

Y1 - 2021

KW - dystroglycans

KW - GOSR2

KW - muscular diseases

KW - myoclonic epilepsies

KW - SNARE proteins

U2 - 10.1002/humu.24247

DO - 10.1002/humu.24247

M3 - Journal article

C2 - 34167170

AN - SCOPUS:85109179529

SN - 1059-7794

VL - 42

SP - 1101

EP - 1106

JO - Human Mutation

JF - Human Mutation

IS - 9

ER -