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

4 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	Human Mutation
Vol/bind	42
Udgave nummer	9
Sider (fra-til)	1101-1106
Antal sider	6
ISSN	1059-7794
DOI	https://doi.org/10.1002/humu.24247
Status	Udgivet - sep. 2021

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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 and Sons Inc.",

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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 - 2021/9

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

SN - 1059-7794

VL - 42

SP - 1101

EP - 1106

JO - Human Mutation

JF - Human Mutation

IS - 9

ER -

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

Abstract

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