Charcot-Marie-Tooth disease type 4B1

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).

Signs and symptoms

• Distal amyotrophy
• Irregular myelin loops
• Myelin outfoldings
• Facial palsy
• Talipes equinovarus
• Scoliosis
• Decreased motor nerve conduction velocity
• Abnormal auditory evoked potentials
• Distal muscle weakness
• Motor delay

Also known as: CMT4B1; Charcot-Marie-Tooth neuropathy type 4B1; autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1