autosomal recessive limb-girdle muscular dystrophy type 2X

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21.

Signs and symptoms

• Centrally nucleated skeletal muscle fibers
• Second degree atrioventricular block
• Syncope
• Elevated circulating creatine kinase activity
• Skeletal muscle atrophy
• Muscular dystrophy
• Loss of ambulation
• Proximal muscle weakness
• Palpitations
• Myalgia

Also known as: LGMD2X; muscular dystrophy, limb-girdle, type 2X