Review Article
Diagnosis of Charcot-Marie-Tooth Disease
Table 1
Summary of CMT classification, including clinical data (such as electrophysiological results) and molecular findings.
| | Dominant forms | | | |
| | CMT 1 (demyelinating) |
| | Type | Gene | Inheritance | Locus |
| | CMT1A: | PMP-22 | Dominant/sporadic | 17p11 | | CMT1B: | P0 protein | Dominant | 1q22 | | CMT1C: | LITAF | Dominant | 16p13 | | CMT1D: | EGR2 | Dominant | 10q21 | | CMT1E: | P0 protein | Dominant | 1q22 | | CMT1F: | Neurofilament | Dominant/sporadic | 8p21 | | Light chain |
| | CMT 2 (axonal) |
| | Type | Gene | Inheritance | Locus |
| | CMT 2A1: | KIF1B | Dominant | 1p36 | | CMT 2A2: | MFN2 | Dominant | 1p36 | | CMT 2B: | RAB7 | Dominant | 3q13-q22 | | CMT 2C: | | Dominant | 12q23-q24 | | CMT 2D: | GARS | Dominant | 7p15 | | CMT 2E: | Neurofilament light chain | Dominant | 8p21 | | CMT 2F: | HSPB1 | Dominant/recessive | 7q11-q21 | | CMT 2G: | | Dominant | 12q12 | | CMT 2I: | P0 | Dominant | 1q22 | | CMT 2J: | P0 | Dominant | 1q22 | | CMT 2L: | HSPB8 | Dominant | 12q24 | | AR-CMT2A | Lamin A/C | Recessive | 1q21.2 | | AR-CMT2B | Med25 | Recessive | 19q13.3 | | CMT 2K: | GDAP1 | Recessive/dominant | 8q21 |
| | Intermediate NCV |
| | Type | Gene | Inheritance | Locus |
| | Connexin-32 | GJB1 | X-linked | Xq13 | | CMT DIA | | Dominant | 10q24 | | CMT DIB | DNM2 | Dominant | 19p12 | | CMT DIC | Tyrosyl-tRNA synthetase | Dominant | 1p34 | | CMT DI3 | P0 | Dominant | 1q22 | | CMT 2E: | Neurofilament light chain | Dominant | 8p21 |
| | CMT 4 |
| | Type | Gene | Inheritance | Locus |
| | CMT 4A: | GDAP1 | Recessive | 8q21 | | CMT 4B1: | MTMR2 | Recessive | 11q23 | | CMT 4B2: | SBF2 | Recessive | 11p15 | | CMT 4C: | SH3TC2 (KIAA1985) | Recessive | 5q32 | | CMT 4D (Lom): | NDRG1 | Recessive | 8q24 | | CMT 4E: | EGR2 | Recessive/dominant | 10q21 | | CMT 4F: | Periaxin | Recessive | 19q13 | | HMSN-Russe | (4G) | Recessive | 10q23 | | CMT 4H: | FGD4 | Recessive | 12q12 |
|
|
