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Patent Granted Mutations in the FIG4 gene cause the rare autosomal recessive Charcot-Marie-Tooth peripheral neuropathy type 4J (CMT4J).[16] FIG4 mutations are also found (without proven causation) in patients with amyotrophic lateral sclerosis (ALS).[19] Most CMT4J patients (15 out of the reported 16) are compound heterozygotes, i.e., the one FIG4 allele is null whereas the other encodes a mutant protein with threonine for isoleucine substitution at position 41.
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