Table 1.
Clinical features of CMT2U patients with mutations in MARS
| This report | Hirano et al. 2016 | Hyun et al. 2014 | Nam et al. 2016 | Nam et al. 2016 | Gonzalez et al. 2013 | Gonzalez et al. 2013 | |
| Family | 1 | 2 | 3 | 4 | 5 | ||
| Variant (NM_004990.3) | c.1189G>A p.Ala397Thr | c.2398C>A p.Pro800Thr | c.2398C>A p.Pro800Thr | c.2398C>A p.Pro800Thr | c.2398C>A p.Pro800Thr | c.1852C>T p.Arg618Cys | c.1852C>T p.Arg618Cys |
| Age at diagnosis (yrs) | 11 | 69 | 68 | N/A | N/A | 50 | 81 |
| Age at onset (years) | <1 | 66 | 50 | 5 | 16 | 45 | 67 |
| Sex | F | F | M | N/A | N/A | M | M |
| Motor Symptoms | Distal>proximal muscle wasting. Loss of ambulation | Very mild toe weakness without muscle atrophy | Distal muscle wasting | N/A | N/A | Distal muscle wasting | Distal muscle wasting |
| Sensory Symptoms | Mild sensory symptoms | Dysesthesia in soles | Sensory Loss | N/A | N/A | Stabbing pain in lower limbs | Distal sensory loss |
| Sural Nerve Biopsy | N/A | Axonal neuropathy | N/A | N/A | N/A | Axonal neuropathy | N/A |