| Accession |
PRJCA026235 |
| Title |
Two adjacent Novel missense mutations homozygously in DYSF gene caused Dysferlinopathy due to splicing abnormalities |
| Relevance |
Medical |
| Data types |
Whole genome sequencing
|
| Organisms |
Homo sapiens
|
| Description |
This study reported two homozygous adjacent missense mutations in the DYSF gene, presenting clinically with bilateral lower limb weakness and calf swelling. Two homozygous adjacent missense mutations in the DYSF gene may be associated with the development of Dysferlinopathy, but the exact mechanism needs to be further investigated. |
| Sample scope |
Multiisolate |
| Release date |
2024-05-17 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
|
|
Two adjacent Novel missense mutations homozygously in DYSF gene caused Dysferlinopathy due to splicing abnormalities
|
Frontiers in genetics
|
0.3389/fgene.2024.1404611
|
|
|
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| No funding support
|
|
|
|
|
|
| Submitter |
Hongyao
Huang (hhy731120hb@sina.com)
|
| Organization |
Suizhou Central Hospital affiliated to Hubei University of Medicine |
| Submission date |
2024-05-17 |
