Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES MUTATION
DES MUTATION
DES p.Ala337Thr (p.A337T) ( ENST00000373960.4 )
DES p.Ala337Pro (p.A337P) ( ENST00000373960.4 )
DES p.Ala337Thr (p.A337T) ( ENST00000373960.4 )
DES p.Ala337Pro (p.A337P) ( ENST00000373960.4 ) - Associated Disease
- MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
- Source Database
- DisGeNET
- Description
- We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myopathy and 2 patients with sporadic disease and analyzed the desmin gene for mutations, using complementary DNA (cDNA) amplified from muscle-biopsy specimens and genomic DNA extracted from blood lymphocytes.
- Pubmed
- 10717012
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.563528744337044
- Year of publication
- 2000
Drugs