Article
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.
Neuromuscular disorders : NMD - 1 May 2013
Cottenie Ellen, Menezes Manoj P, Rossor Alexander M, Morrow Jasper M, Yousry Tarek A, Dick David J, Anderson Janice R, Jaunmuktane Zane, Brandner Sebastian, Blake Julian C, Houlden Henry, Reilly Mary M
Abstract excerpt
Charcot-Marie-Tooth disease type 4J (CMT4J), a rare form of demyelinating CMT, caused by recessive mutations in the phosphoinositide phosphatase FIG4 gene, is characterised by progressive proximal and distal weakness and evidence of chronic denervation in both proximal and distal muscles. We describe a patient with a previous diagnosis of CMT1 who presented with a two year history of rapidly progressive weakness...
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