| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes. (Orphanet Rare Disease Ontology, Orphanet_45448) |
| External Link | http://www.omim.org/entry/254130 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Miyoshi myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| DYSF | dysferlin |
