autosomal dominant limb-girdle muscular dystrophy type 3

An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21.

Signs and symptoms

• Hyporeflexia
• Elevated circulating creatine kinase activity
• Proximal upper limb amyotrophy
• Myopathy
• Cataract
• Pelvic girdle muscle weakness
• Rimmed vacuoles
• Flexion limitation of toes
• Limb-girdle muscular dystrophy
• Shoulder girdle muscle weakness

Also known as: LGMD1G; autosomal dominant limb-girdle muscular dystrophy type 1G; muscular dystrophy limb-girdle type 1G