autosomal dominant limb-girdle muscular dystrophy type 1H

An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in variation in the region 3p25.1-p23.

Signs and symptoms

• Hyporeflexia
• Elevated circulating creatine kinase activity
• Muscular dystrophy
• Calf muscle hypertrophy
• Increased connective tissue
• Muscle weakness
• Proximal muscle weakness
• Shoulder girdle muscle atrophy
• Centrally nucleated skeletal muscle fibers

Also known as: muscular dystrophy limb-girdle type 1H