nemaline myopathy 8

A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 ge

A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22.

Signs and symptoms

• Facial palsy
• Muscle weakness
• Respiratory failure
• Dysphagia
• Flexion contracture
• Gastrostomy tube feeding in infancy
• Decreased fetal movement
• Fetal akinesia sequence
• Myofibrillar myopathy
• Nemaline bodies

Also known as: NEM8; nemaline myopathy 8, autosomal recessive