centronuclear myopathy 4

An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3.

Signs and symptoms

• Muscle weakness
• Exercise intolerance
• Centrally nucleated skeletal muscle fibers
• Type 1 muscle fiber predominance
• Frequent falls
• Myalgia
• Hypotonia
• Motor delay
• Seizure
• Intellectual disability

Also known as: CNM4