Miyoshi muscular dystrophy
Information
- Disease name
- Miyoshi muscular dystrophy
- Disease ID
- DOID:0070198
- Description
- "A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3942856]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| DYSF | 2 | 71,466,699 | 71,686,763 | 40 |
Annotation
- Disase is a (Disease Ontology)
- DOID:11720
- Cross Reference ID (Disease Ontology)
- GARD:9676
- Cross Reference ID (Disease Ontology)
- MESH:C537480
- Cross Reference ID (Disease Ontology)
- MIM:PS254130
- Cross Reference ID (Disease Ontology)
- ORDO:45448
- Exact Synonym (Disease Ontology)
- Miyoshi myopathy
- OMIM Phenotype Series Number (OMIM)
- PS254130