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

3 Citations (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.

Original language	English
Journal	Human Mutation
Volume	42
Issue number	9
Pages (from-to)	1101-1106
Number of pages	6
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.24247
Publication status	Published - Sept 2021

Keywords

dystroglycans
GOSR2
muscular diseases
myoclonic epilepsies
SNARE proteins

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10.1002/humu.24247

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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",

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year = "2021",

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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

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U2 - 10.1002/humu.24247

DO - 10.1002/humu.24247

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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

Keywords

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