A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2X patients also develop cardiac arrhythmias resulting in syncopal episodes as young adults or later in life.

Name Development Level Target Family
Name Description
UniProt Disease