Condition: Charcot-Marie-Tooth Disease, Axonal, Type 2a1


rs121908160 in KIF1B gene and Charcot-Marie-Tooth Disease, Axonal, Type 2a1 PMID 11389829 2001 Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.