Table 1.
Phenotype and clinical severity of patients with MFN2 mutations.
| Mutation | Patient # | Age at onset | Age at review | Sex | CMTESv2 | CMTESv2-R | Ambulation | Motor symptoms | Sensory symptoms |
|---|---|---|---|---|---|---|---|---|---|
| R94Q | 01–1 | 3 y | 22 y | M | 13 | 18 | Ambulatory (bilateral support, AFOs) | + | + |
| R104W | 02–1 | 1 y | 5 y | M | 26 (CMTPeds) | / | Ambulatory (AFOs) | + | − |
| 03–1 | 14 y | 55 y | M | 18 | 22 | Ambulatory (bilateral support) | + | + | |
| 03–2 | 2 y | 23 | M | 16 | 20 | Non-ambulatory | + | − | |
| 03–3 | 4 y | 20 | M | 18 | 24 | Non-ambulatory | + | + | |
| T236M | 04–1 | 5 y | 8 y | M | 12 (CMTPeds) | / | Ambulatory (plantars) | + | − |
| S249C | 05–1 | 17 y | 39 y | F | 7 | 8 | Ambulatory (autonomous) | + | − |
| R280H | 06–1 | 69 y | 77 y | F | 9 | 12 | Ambulatory (unilateral support) | + | − |
| 07–1 | 48 y | 76 y | F | 14 | 19 | Ambulatory (bilateral support) | + | + | |
| 08–1 | 58 y | 71 y | M | 3 | 3 | Ambulatory (autonomous) | + | − | |
| K357E | 09–1 | 1 y | 23 y | F | 19 | 26 | Non-ambulatory | + | + |
| A383V | 10–1 | 7 y | 48 y | F | 12 | 13 | Ambulatory (AFOs) | + | − |
| 10–2 | 12 y | 58 y | F | 11 | 16 | Ambulatory (walking aids) | + | + |
AFO ankle–foot orthosis, CMTES Charcot–Marie–Tooth examination scale, CMTES-R Rasch analysis-weighted CMTES, CMTPeds CMT Pediatric Scale.