Myopathy, myofibrillar, 13, with rimmed vacuoles
Myopathy, myofibrillar, 13, with rimmed vacuoles
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.
Also known as autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome, HSPB8-associated autosomal dominant rimmed vacuolar myopathy, HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome, limb-girdle rimmed vacuolar myopathy, MFM13, rimmed vacuoles myopathy — per MONDO