Term Name: | myofibrillar myopathy 13 with rimmed vacuoles |
---|---|
Synonyms: | |
Definition: | A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. |
Ontology: | Human Disease [DOID:0051045] ( DOID:0051045 ) |