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

Mads G Stemmerik Josefine de Stricker BorchMorten DunøThomas O Krag John Vissing

Published in: Human mutation (2021)

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.

Keyphrases

cross sectional
muscular dystrophy
contrast enhanced
magnetic resonance
deep learning
early onset
case report
late onset
adipose tissue
copy number
convolutional neural network
optical coherence tomography
fatty acid
replacement therapy
soft tissue
duchenne muscular dystrophy