Arthrogryposis Multiplex Congenita 2, Neurogenic Type (AMC2)

Arthrogryposis Multiplex Congenita 2, Neurogenic Type, also known as arthrogryposis multiplex congenita, neurogenic type, is related to arthrogryposis multiplex congenita 1, neurogenic, with myelin defect and arthrogryposis, renal dysfunction, and cholestasis 1. An important gene associated with Arthrogryposis Multiplex Congenita 2, Neurogenic Type is ERGIC1 (Endoplasmic Reticulum-Golgi Intermediate Compartment 1). Affiliated tissues include spinal cord and heart, and related phenotypes are flexion contracture and emg: chronic denervation signs