myofibrillar myopathy 9

A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.

Signs and symptoms

• Scapular winging
• Elevated circulating creatine kinase activity
• Muscle fiber splitting
• Quadriceps muscle weakness
• Gait disturbance
• Reduced vital capacity
• Diaphragmatic weakness
• Foot dorsiflexor weakness
• Pelvic girdle muscle weakness
• Rimmed vacuoles

Also known as: Edstrom myopathy; HIBM-ERF; HMERF; Hereditary inclusion body myopathy with early respiratory failure; MFM-titinopathy