myofibrillar myopathy 11

A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11.

Signs and symptoms

• Centrally nucleated skeletal muscle fibers
• Gowers sign
• Reduced forced vital capacity
• Decreased fetal movement
• Feeding difficulties in infancy
• Overweight
• Z-band streaming
• Hypernasal speech
• Proximal muscle weakness
• Type 1 muscle fiber predominance

Also known as: MFM11