myofibrillar myopathy 7

A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22.

Signs and symptoms

• Achilles tendon contracture
• Elevated circulating creatine kinase activity
• Facial palsy
• Flexion contracture
• Urinary incontinence
• Limited hip extension
• Increased Z-disc width
• Type 2 muscle fiber predominance
• Tongue atrophy
• Lumbar hyperlordosis