Charcot-Marie-Tooth Disease, Recessive Intermediate B (CMTRIB)

Charcot-Marie-Tooth Disease, Recessive Intermediate B, also known as charcot-marie-tooth disease recessive intermediate b, is related to myopathy, lactic acidosis, and sideroblastic anemia 2 and charcot-marie-tooth disease, dominant intermediate a. An important gene associated with Charcot-Marie-Tooth Disease, Recessive Intermediate B is KARS1 (Lysyl-TRNA Synthetase 1), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Related phenotypes are self-injurious behavior and global developmental delay