Disease name
|
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4E
|
|
Marker gene
|
Gene symbol
|
Chromosome location
|
Protein name
|
EGR2
|
10q21.2 |
Early growth response protein 2 |
|
|
Inheritance
|
상염색체 열성 |
|
Age of onset
|
신생아기, 영아기 |
|
ICD 10 code
|
G60.0 |
|
MIM number
|
605253
|
|
Synonym
|
Autosomal recessive congenital hypomyelinating neuropathy |
CMT4E |
|
Summary
|
Under development. |
|