autosomaal dominante hereditaire motorische en sensorische neuropathie type 2J (aandoening)
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2J
autosomaal dominante CMT 2J autosomaal dominante ziekte van Charcot-Marie-Tooth type 2J autosomaal dominante HMSN 2J
Autosomal dominant Charcot-Marie-Tooth disease type 2J
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.
