fatal infantile hypertonic myofibrillar myopathy
ORPHA: 280553
Overview
myofibrillar myopathy that has material basis in homozygous mutation in the CRYAB gene on chromosome 11q23
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:280553fatal infantile hypertonic myofibrillar myopathy
| Orphanet | ORPHA:280553 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO