centronuclear myopathy 2

An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3.

Signs and symptoms

• Proximal muscle weakness
• Centrally nucleated skeletal muscle fibers
• Flexion contracture
• Oligohydramnios
• Decreased fetal movement
• Intrauterine growth retardation
• Distal muscle weakness
• Motor delay
• Gowers sign
• Feeding difficulties in infancy

Also known as: CNM2