adult-onset myofibrillar myopathy 2A

A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.

Signs and symptoms

• Skeletal muscle autophagosome accumulation
• Leg muscle stiffness
• Elevated circulating creatine kinase activity
• Muscle fiber splitting
• Quadriceps muscle weakness
• Late-onset proximal muscle weakness
• Antinuclear antibody positivity
• Distal muscle weakness
• Fasciculations
• Orthopnea

Also known as: alpha-b crystallinopathy; myofibrillar myopathy 2