nemaline myopathy 6

A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 g

A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22.

Signs and symptoms

• Skeletal muscle atrophy
• Muscle stiffness
• Gait disturbance
• Myopathy
• Difficulty climbing stairs
• Limb muscle weakness
• Difficulty running
• Nemaline bodies
• Exercise intolerance
• Neck flexor weakness

Also known as: nemaline myopathy 6, autosomal dominant