Myopathy can be a key phenotype of membrin (GOSR2) deficiency
Research output: Contribution to journal › Journal article › Research › peer-review
| Original language | English |
|---|---|
| Journal | Human Mutation |
| Volume | 42 |
| Issue number | 9 |
| Pages (from-to) | 1101-1106 |
| ISSN | 1059-7794 |
| DOIs | |
| Publication status | Published - 2021 |
- dystroglycans, GOSR2, muscular diseases, myoclonic epilepsies, SNARE proteins
Research areas
ID: 302155370