Charcot-Marie-Tooth Disease, Axonal, Type 2a1 (CMT2A1)

Charcot-Marie-Tooth Disease, Axonal, Type 2a1, also known as cmt2a1, is related to charcot-marie-tooth disease, axonal, type 2j and neuromyotonia and axonal neuropathy, autosomal recessive. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2a1 is KIF1B (Kinesin Family Member 1B), and among its related pathways/superpathways are Golgi-to-ER retrograde transport and Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include spinal cord, and related phenotypes are distal amyotrophy and peripheral axonal neuropathy