myofibrillar myopathy 4

A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10.

Signs and symptoms

• Progressive muscle weakness
• Elevated circulating creatine kinase activity
• EMG: neuropathic changes
• Muscle fiber splitting
• Polyneuropathy
• Progressive distal muscle weakness
• Progressive proximal muscle weakness
• Cardiomyopathy
• Autophagic vacuoles
• Myofibrillar myopathy

Also known as: zaspopathy