autosomal recessive limb-girdle muscular dystrophy type 2N

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Complete right bundle branch block
• Skeletal muscle hypertrophy
• Proximal muscle weakness
• Muscular dystrophy
• Motor delay

Also known as: LGMD2N; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2; muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related