Guest guest Posted September 10, 2003 Report Share Posted September 10, 2003 Deb - this is from an abstract off Pub Med I posted a few weeks ago: perhaps you might want to get a copy of the entire article - it is from the European Journal of Neurology, Sept. 2003 ~ G ------------------------------------------------- Charcot-Marie-Tooth disease type 1B (CMT1B) is a demyelinating neuropathy inherited as an autosomal dominant trait. The majority of CMT1B cases are caused by mutations in the myelin protein zero (P0) gene (MPZ). Only a few mutations in MPZ gene have been reported to be associated with focally folded myelin sheaths. We have studied five patients from one family with five generations, affected by CMT1B disease. The morphological studies of sural nerve biopsy performed in the proband revealed fibers with focally folded myelin. DNA sequencing analysis showed the Asn131Lys mutation in the MPZ gene in three members of the affected family. Quote Link to comment Share on other sites More sharing options...
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