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GENATLAS PHENOTYPE |
last update : 11-05-2009 |
Symbol | CMT2B1 |
Location | 1q22 |
Name | Charcot-Marie-Tooth disease, axonal, type 2B1 |
Other name(s) | Charcot-Marie-Tooth neuropathy type 2B1 |
Corresponding gene | LMNA |
Other symbol(s) | ARCMT2 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | neurology |
Type | disease |
Gene product |
Name | lamin A/C |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
|  
| R298C, mostly frequent (Bouhouche 2007)
| |
Remark(s) |