Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Arg406Trp (p.R406W)
(
ENST00000373960.4 )
DES p.Arg406Trp (p.R406W) ( ENST00000373960.4 ) - Associated Disease
- Paresis
- Source Database
- DisGeNET
- Description
- We have previously characterized a de novo desmin R406W mutation in a patient of European origin with early onset muscle weakness in the lower extremities and atrioventricular conduction block requiring a permanent pacemaker.
- Pubmed
- 14991347
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2004
Drugs