Myopathy can be a key phenotype of membrin (GOSR2) deficiency. Issue 9 (6th July 2021)
- Record Type:
- Journal Article
- Title:
- Myopathy can be a key phenotype of membrin (GOSR2) deficiency. Issue 9 (6th July 2021)
- Main Title:
- Myopathy can be a key phenotype of membrin (GOSR2) deficiency
- Authors:
- Stemmerik, Mads G.
Borch, Josefine de S.
Dunø, Morten
Krag, Thomas
Vissing, John - Abstract:
- 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.
- Is Part Of:
- Human mutation. Volume 42:Issue 9(2021)
- Journal:
- Human mutation
- Issue:
- Volume 42:Issue 9(2021)
- Issue Display:
- Volume 42, Issue 9 (2021)
- Year:
- 2021
- Volume:
- 42
- Issue:
- 9
- Issue Sort Value:
- 2021-0042-0009-0000
- Page Start:
- 1101
- Page End:
- 1106
- Publication Date:
- 2021-07-06
- Subjects:
- dystroglycans -- GOSR2 -- muscular diseases -- myoclonic epilepsies -- SNARE proteins
Human chromosome abnormalities -- Periodicals
Mutation (Biology) -- Periodicals
616.04205 - Journal URLs:
- http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004 ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1002/humu.24247 ↗
- Languages:
- English
- ISSNs:
- 1059-7794
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 4336.217000
British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 18548.xml