has material basis in germline mutation in MARS1 Charcot-Marie-Tooth disease axonal type 2U https://www.malacards.org/card/charcot_marie_tooth_disease_axonal_type_2u Orphanet:397735 SCTID:765046002 UMLS:C4084821 Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. Charcot-Marie-Tooth disease type 2 caused by mutation in MARS Charcot-Marie-Tooth disease, axonal, type 2U MONDO:0014566 autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation OMIM:616280 autosomal dominant Charcot-Marie-Tooth disease type 2U MEDGEN:906504 MARS Charcot-Marie-Tooth disease type 2 CMT2U GARD:0017638 DOID:0110173 Charcot-Marie-Tooth disease type 2