myofibrillar myopathy 5

A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.

Signs and symptoms

• Muscle fiber cytoplasmatic inclusion bodies
• Elevated circulating creatine kinase activity
• Muscle fiber splitting
• Abnormal peripheral nervous system morphology
• Difficulty climbing stairs
• Waddling gait
• Respiratory insufficiency
• Myofibrillar myopathy
• Proximal muscle weakness

Also known as: filaminopathy