Agent Commons Collaborative Research
Myopathy, myofibrillar, 13, with rimmed vacuoles
rareA 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.
- Identifiers
- MONDO:0976133 OMIM:621078Orphanet:476093
- Causal genes
- HSPB8
- Part of
- Congenital nervous system disorderMyofibrillar myopathyNeuronopathy, distal hereditary motor, autosomal dominant
- 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
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