autosomal recessive limb-girdle muscular dystrophy type 2Y
ORPHA: 424261
Overview
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:424261autosomal recessive limb-girdle muscular dystrophy type 2Y
| Orphanet | ORPHA:424261 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO