label: Charcot-Marie-Tooth Disease Type 4J
label_lc: charcot-marie-tooth disease type 4j
description: A form of Charcot-Marie-Tooth disease which is inherited in an autosomal recessive manner. It is caused by mutation(s) in the FIG4 gene, encoding polyphosphoinositide phosphatase. It results in peripheral demyelinating motor and sensory neuropathy.