Charcot-Marie-Tooth disease type 2 subtype E(English)
- caused by dominantly inherited mutations in the NEFL gene, located on chromosome 8, which encodes for the neurofilament light chain protein. Neurofilaments form the structural framework determining the shape and size of nerve cells. The defective NEFL protein is thought to disrupt the assembly of neurofilaments in the axons and subsequently impair the transmission of nerve impulses
- CMT2
- Congenital disorders, Neuropathy
- https://charcot…th-type-2-cmt2/