Hu B, McCollum M, Ravi V, Arpag S, Moiseev D, Castoro R, Mobley B, Burnette B, Siskind C, Day J, Yawn R, Feely S, Li Y, Yan Q, Shy M, Li J. Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. Annals of neurology. 2018 Apr;83(83). 756-770. PMID: 29518270 [PubMed] PMCID: PMC5912982 NIHMSID: NIHMS950205.
Charcot-Marie-Tooth type 4J (CMT4J) is a rare autosomal recessive neuropathy caused by mutations in FIG4 that result in loss of FIG4 protein. This study investigates the natural history and mechanisms of segmental demyelination in CMT4J.