Symbol
| CMT2J
|
Location
| 1q22
|
Name
|
Charcot-Marie-Tooth neuropathy, type 2J |
Other name(s)
|
Charcot-Marie-Tooth neuropathy, type 2J
. Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities |
Corresponding gene
|
MPZ
|
Main clinical features
|
characterized by relatively late onset (37 to 61 years), marked sensory impairment, and distal muscle atrophy and weakness, clusters of remyelinating axons in the sural nerve biopsy |
Genetic determination
| autosomal dominant |
Function/system disorder
| neurology |
Type
| disease
|