congenital myopathy 23

A congenital myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.

Signs and symptoms

• Motor delay
• Lower limb muscle weakness
• Gait disturbance
• Joint contracture
• Neck muscle weakness
• Nemaline bodies
• Myopathic facies
• Muscle fiber splitting
• Centrally nucleated skeletal muscle fibers
• Elevated circulating creatine kinase activity

Also known as: CAP myopathy 2; NEM4; nemaline myopathy 4; nemaline myopathy 4, autosomal dominant