Annotation Detail
Information
- Associated Genes
- DYSF
- Associated Variants
-
DYSF MUTATION
DYSF MUTATION - Associated Disease
- Muscle Weakness
- Source Database
- DisGeNET
- Description
- The pattern of fatty degeneration of muscles and of muscle weakness shows only minor differences between MMD1 (n=6) and MMD3 (n=8) patients with more frequently fatty degeneration of the rectus femoris, anterior tibial, and extensor digitorum muscles and more frequently muscle weakness in the anterior tibial, peroneal and calf muscle in MMD1.
- Pubmed
- 25176504
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
Drugs