Article
Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.
Annals of neurology - 1 Apr 2018
Hu Bo, McCollum Megan, Ravi Vignesh, Arpag Sezgi, Moiseev Daniel, Castoro Ryan, Mobley Bret, Burnette Bryan, Siskind Carly, Day John, Yawn Robin, Feely Shawna, Li Yuebing, Yan Qing, Shy Michael, Li Jun
Abstract excerpt
OBJECTIVE: 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. METHODS: Over the past 9 years, we have enrolled and studied a cohort of 12 CMT4J patients, including 6 novel FIG4 mutations. We evaluated these patients and related...
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