Disease association ontology term - MONDO:0976133 - myopathy, myofibrillar, 13, with rimmed vacuoles
Term summary
- ID
- MONDO:0976133
- Name
- myopathy, myofibrillar, 13, with rimmed vacuoles
- Ontology or CV name
- Disease association
- Definition
- A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles.
