nemaline myopathy 3

A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.

Signs and symptoms

• Facial palsy
• Limb muscle weakness
• Motor delay
• Feeding difficulties in infancy
• Waddling gait
• Hyperlordosis
• Type 1 muscle fiber predominance
• High palate
• Proximal muscle weakness
• Frequent falls

Also known as: NEM3; autosomal dominant typical congenital myopathy 2A; congenital myopathy 2A; nemaline myopathy 3, autosomal dominant or recessive