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 )

Relationships
is a type of: autosomal dominant disease myofibrillar myopathy