neurogenic-type arthrogryposis multiplex congenita-2

An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inhe

An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35.

Signs and symptoms

• Skeletal muscle atrophy
• Talipes equinovarus
• Myopathy
• Congenital contracture
• Abnormal cardiovascular system morphology
• Arthrogryposis multiplex congenita

Also known as: AMC neurogenic type; AMC2; AMCN; arthrogryposis multiplex congenita 2, neurogenic type; arthrogryposis multiplex congenita neurogenic type