Table 2.
Clinical characteristics of CMT2C patients from reported cases
| Case number | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Study | Deng et al. 2020 [10] | Sullivan et al.2015 [12] | Evangelista et al.2015 [13] | Echaniz-Laguna et al.2014 [4] | Landoure et al.2012 [14] | Klein et al. 2011 [11] | Auer-Grumbach et al.2010 [7] | Landoure et al.2010 [14] | Zimoń et al.2010 [3] | Chen et al. 2010 [16] | |
|
Number (male) |
2 (2) | 4 (2) | 1 (0) | 1 (1) | 3(1) | 4(2) | 9 | 17(6) | 1 (0) | 3(1) | 6(2) |
| Mean age at onset | Childhood | 33 | 40 | Childhood | 5 | 39 | 15 | 16 | 6 | 26/1a | 7a |
| Family history | Incomplete penetrance | AD | De novo | De novo | AD |
AD /De novo |
AD | AD | De novo | AD | AD |
| Mutation site |
R316C R269C |
R237G R237L | D62N | R232S | R186Q | R232C R316H | R316C R315W | R269C R269H | V620I | R315W | S542Y |
| Sensory involvement | 2/2 | 4/4 | 1/1 | 1/1 | 3/3 | 4/4 | 5/9 | 16/17 | 0/1 | 3/3 | 2/6 |
| Proximal UL weakness | 0/2 | 2/4 | 1/1 | 0/1 | 0/3 | 0/4 | 6/7 | 8/17 | 0/1 | 0/3 | 0/6 |
| Proximal LL weakness | 0/2 | 1/4 | 1/1 | 0/1 | 1/3 | 0/4 | NA | 0/1 | 2/3 | ||
| Distal UL weakness | 1/2 | 3/4 | 1/1 | 1/1 | 3/3 | 2/4 | 8/9 | 17/17 | 1/1 | 3/3 | 4/6 |
| Distal LL weakness | 2/2 | 4/4 | 1/1 | 1/1 | 3/3 | 2/4 | 9/9 | 0/1 | |||
| Areflexia | 2/2 | 2/4 | 0/1 | NA | 3/3 | 4/4 | 9/9 | NA | NA | 3/3 | 6/6 |
| Scoliosis | 0/2 | 0/4 | 0/1 | 1/1 | 2/3 | 0/4 | 4/7 | 2/5 | 1/1 | 0/3 | 0/6 |
| Vocal cord paralysis | 1/2 | 2/4 | 0/1 | 1/1 | 3/3 | 2/4 | 7/9 | 15/15 | 0/1 | 2/3 | 4/6 |
| Hearing loss | 1/2 | 0/4 | 0/1 | 0/1 | 1/3 | 0/4 | NA | 10/17 | 0/1 | 0/3 | 0/6 |
| Pes cavus | 2/2 | NA | 0/1 | 1/1 | NA | 1/4 | NA | 3/7 | NA | NA | 1/6 |
| Other features | Tremor | Shortness of breath | Bladder incontinence | Short stature |
Congenital CN III palsy |
Short stature Dolichocephaly |
|||||
AD Autosomal dominant, UL Upper limb, LL Lower limb, NA Not available, CN Cranial nerve
aHoarse voice/wheezing