Table 1B.
Clinical and electrophysiological features from 27 IPN index patients with CMT2, for whom a candidate variant was identified
| Patient | Disease | Gene | Gender | Age at onset | Deep tendon reflexes | Foot deformities | Muscular weakness and wasting of distal muscles | Sensory loss | Other clinical signs | Median nerve motor MNCV (m/s) | Median nerve distal CMAP (mV) | Nerve biopsy |
| 1 | CMT2 AR | MFN2 GDAP1 | F | 6 years | − | + | + | + | 42 | NA | Denervation- reinervation | |
| 4 | CMT2 AD | NEFL | M | 9 years | − | + | + | − | NA | NA | – | |
| 7 | CMT2 AD | GAN | M | 68 years | − | + | + | + | Right ptosis and cerebellar ataxia | 50 | 8 | – |
| 8 | CMT2 AR | MFN2 GDAP1 | M | 7 years | NA | + | + | − | 39 | 6.7 | – | |
| 11 | CMT2 AR | IGHMBP2 | F | 7 years | − | + | + | + | 39 | NA | – | |
| 19 | CMT2 AR | GAN | M | 8 years | NA | + | + | + | − | − | – | |
| 22 | CMT2 AD | AARS | M | 14 years | NA | NA | + | − | 52 | 7.4 | NA | |
| 23 | CMT2 AR | GDAP1 DCTN1 | F | 43 years | − | + | + | + | 50 | NA | – | |
| 24 | CMT2 AR | DARS2 | M | 8 years | − | − | + | + | Surgery of right ureter | 42 | 2.6 | NA |
| 26 | CMT2 SPO | MFN2 | M | 3 years | NA | NA | + | NA | NA | NA | Demyelinating aspect with secondary axonal degeneration | |
| 27 | CMT2 AD | INF2 | F | 13 years | − | + | + | + | 47 | 1.99 | – | |
| 29 | CMT2 AD | LRSAM1 | M | 15 years | − | − | + | + | Scoliosis | 64 | 5.5 | – |
| 31 | CMT2 AD | NEFL | M | Infancy | − | + | + | + | Vocal cords palsy | 48 | NA | – |
| 33 | CMT2 AD | KIF1B | F | 30 years | + | + | + | + | Scoliosis, Hashimoto disease, erythema nodosum | 60 | NA | – |
| 35 | CMT2 AD | INF2 | F | Infancy | − | − | + | − | Deafness | 47 | 1.43 | – |
| 37 | CMT2 AD | KIF5A | F | 47 years | − | + | + | + | 43 | NA | – | |
| 38 | CMT2 SPO | SEPT9 ARHGEF10 | M | Adolescence | − | + | + | + | Renal cancer | 47 | 6.5 | – |
| 42 | CMT2 AD | MFN2 | F | 9 years | + | + | + | − | 62 | 7.4 | – | |
| 43 | CMT2 AD | BAG3 | F | 7 years | + | + | + | − | Scoliosis+learning disability+ventricular dilatation+epilepsy | 53 | 8.9 | – |
| 44 | CMT2 AD | KIF5A | M | Adolescence | − | + | + | − | 76 | 4.5 | NA | |
| 46 | CMT2 AR | MFN2 | M | 3 years | NA | NA | + | + | 48 | 0.13 | – | |
| 51 | CMT2 AD | HSPB1 | M | 40 years | + | + | + | + | 50 | NA | – | |
| 53 | CMT2 AD | NEFL | F | Infancy | + | + | + | − | 58 | 1.03 | NA | |
| 54 | CMT2 AR | GAN | F | 2 years | − | + | + | − | Congenital ptosis | NA | NA | – |
| 58 | CMT2 AD | BICD2 | F | 8 years | + | + | + | − | 48 | 11.4 | – | |
| 59 | CMT2 SPO | SPTLC1 | F | 36 years | − | − | + | + | Chronic inflammatory demyelinating polyneuropathy with 140 antineurofasciine Ab+membranous glomerulonephritis | 41 | 5 | Demyelinating aspect and axonal degeneration |
| 60 | CMT2 AD | AARS | M | 20 years | NA | + | + | + | NA | NA | NA |
+, presence; −, absence; AD, autosomal dominant; AR, autosomal recessive; CMAP, compound muscle action potential; CMT2, Charcot-Marie-Tooth disease type 2; F, female; IPN, inherited peripheral neuropathy; M, male; MNCV, motor nerve conduction velocity; NA, not available; SPO, sporadic.