myofibrillar myopathy 3

A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Muscle fiber splitting
• Centrally nucleated skeletal muscle fibers
• Increased variability in muscle fiber diameter
• Achilles tendon contracture
• Muscle stiffness
• Distal amyotrophy
• Polyneuropathy
• Areflexia
• Muscle fiber cytoplasmatic inclusion bodies

Also known as: LGMD 1A; LGMD1A; autosomal dominant limb-girdle muscular dystrophy type 1A; myotilinopathy; spheroid body myopathy