myofibrillar myopathy 13 with rimmed vacuoles

Term ID

DOID:0051045

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. https://pubmed.ncbi.nlm.nih.gov/31403083/

References

• MIM:621078

Ontology

Human Disease   ( DOID:0051045 )