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...
Paper Details
Title
Myopathy can be a key phenotype of membrin (GOSR2) deficiency
Published Date
Jul 6, 2021
Journal
Volume
42
Issue
9
Pages
1101 - 1106
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Notes
History