autosomal recessive limb-girdle muscular dystrophy type 2O

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Gowers sign
• High myopia
• Increased endomysial connective tissue
• Calf muscle hypertrophy
• Hyperlordosis
• Proximal muscle weakness
• Increased variability in muscle fiber diameter
• Difficulty climbing stairs
• Muscular dystrophy

Also known as: LGMD2O; MDDGC3; muscular dystrophy-dystroglycanopathy (limb-girdle) type C3; muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related