autosomal dominant limb-girdle muscular dystrophy type 2

An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32.

Signs and symptoms

• Pelvic girdle muscle weakness
• Shoulder girdle muscle weakness
• Elevated circulating creatine concentration
• Distal muscle weakness
• Difficulty climbing stairs
• Centrally nucleated skeletal muscle fibers
• Scapular winging
• Muscular dystrophy
• Increased endomysial connective tissue
• Difficulty running

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