Article
Myopathy can be a key phenotype of membrin (GOSR2) deficiency.
Human mutation - 1 Sept 2021
Stemmerik Mads G, Borch Josefine de S, Dunø Morten, Krag Thomas, Vissing John
Abstract excerpt
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.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.