Case report of a child with combined genetic pathology: cystic fibrosis and facioscapulohumeral progressive muscular dystrophy
The article presents a rare case of a child with a laboratory confirmed combination of several inherited diseases: cystic fibrosis (mutations F508del and E92K) and facioscapulohumeral progressive muscular dystrophy (FSHD). Through the example of the case authors describe the clinical findings of the...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2015-02-01
|
| Series: | Nervno-Myšečnye Bolezni |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/12 |