myopathy, myofibrillar, 13, with rimmed vacuoles
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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015362
neuronopathy, distal hereditary motor, autosomal dominant
is_a
MONDO:0018943
myofibrillar myopathy
is_a
HSPB8-associated autosomal dominant rimmed vacuolar myopathy
exact
HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
exact
MFM13
exact
autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
exact
limb-girdle rimmed vacuolar myopathy
exact
rimmed vacuoles myopathy
exact
SPBC3E7.02c SPCC338.06c