Charcot-Marie-Tooth disease type 4B2 (Q104665)
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Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy with childhood-onset of muscle weakness, sensory loss, reduced nerve conduction velocities, characteristic myelin outfoldings and a severe disease course. In addition to the severe neuropathy, patients from some CMT4B2 families also develop early-onset glaucoma.
| Language | Label | Description | Also known as |
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| default for all languages | ID_393759720 |
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| English | Charcot-Marie-Tooth disease type 4B2 |
Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy with childhood-onset of muscle weakness, sensory loss, reduced nerve conduction velocities, characteristic myelin outfoldings and a severe disease course. In addition to the severe neuropathy, patients from some CMT4B2 families also develop early-onset glaucoma. |
