Charcot-Marie-Tooth disease type 2J

MONDO:0011903

Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is 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.

Also known as: CMT2J, Charcot-Marie-Tooth disease, type 2J, CMT 2J, Charcot Marie Tooth disease type 2J, Charcot-Marie-Tooth disease, axonal, type 2J, Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities, Charcot-Marie-Tooth neuropathy, type 2J, autosomal dominant Charcot-Marie-Tooth disease type 2J

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