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

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@article{b321bda4181945e2b6344c190f145145,
title = "Myopathy can be a key phenotype of membrin (GOSR2) deficiency",
abstract = "T1-weighted, cross-sectional MR images showing shoulder girdle, abdominal, paraspinal, gluteal and thigh muscles almost completely replaced by fat, whereas lower leg muscles are almost unaffected i a patient who is compound heterozygous for pathogenic variants in GOSR2.",
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",
note = "{\textcopyright} 2021 Wiley Periodicals LLC.",
year = "2021",
month = sep,
doi = "10.1002/humu.24247",
language = "English",
volume = "42",
pages = "1101--1106",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "John/Wiley & Sons, Inc. John/Wiley & Sons Ltd",
number = "9",

}

RIS

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

N1 - © 2021 Wiley Periodicals LLC.

PY - 2021/9

Y1 - 2021/9

N2 - T1-weighted, cross-sectional MR images showing shoulder girdle, abdominal, paraspinal, gluteal and thigh muscles almost completely replaced by fat, whereas lower leg muscles are almost unaffected i a patient who is compound heterozygous for pathogenic variants in GOSR2.

AB - T1-weighted, cross-sectional MR images showing shoulder girdle, abdominal, paraspinal, gluteal and thigh muscles almost completely replaced by fat, whereas lower leg muscles are almost unaffected i a patient who is compound heterozygous for pathogenic variants in GOSR2.

KW - dystroglycans

KW - GOSR2

KW - muscular diseases

KW - myoclonic epilepsies

KW - SNARE proteins

UR - http://www.scopus.com/inward/record.url?scp=85109179529&partnerID=8YFLogxK

U2 - 10.1002/humu.24247

DO - 10.1002/humu.24247

M3 - Journal article

C2 - 34167170

VL - 42

SP - 1101

EP - 1106

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 9

ER -

ID: 67848022