centronuclear myopathy 6 with fiber-type disproportion

An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1.

Signs and symptoms

• Centrally nucleated skeletal muscle fibers
• Scoliosis
• Type 1 muscle fiber predominance
• Proximal muscle weakness
• Increased variability in muscle fiber diameter
• Skeletal muscle atrophy
• Joint hypermobility
• Hypotonia
• Distal muscle weakness
• Motor delay

Also known as: CNM6