Annotation Detail
Information
- Associated Genes
- DYSF
- Associated Variants
-
DYSF MUTATION
DYSF MUTATION - Associated Disease
- Miyoshi myopathy
- Source Database
- DisGeNET
- Description
- In this retrospective cross-sectional study clinical and muscle imaging data of patients with Miyoshi distal myopathy phenotype (MMD1 and MMD3) and limb girdle muscular dystrophy 2L (LGMD2L) were described.
- Pubmed
- 25176504
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.577372279813139
Drugs