autosomal recessive limb-girdle muscular dystrophy type 2X

ORPHA: 476084

Overview

autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the BVES gene on chromosome 6q21

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

Orphanet Code

ORPHA:476084
autosomal recessive limb-girdle muscular dystrophy type 2X
OrphanetORPHA:476084
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO