Guest guest Posted April 23, 2003 Report Share Posted April 23, 2003 Abstract from Muscle Nerve 2003 May;27(5):628-30 Clinical and genetic analysis of CMT1B in a Nigerian family. Kakar R, Ma W, Dutra A, Seltzer WK, Grewal RP. Laboratory of Neurogenetics, New Jersey Neuroscience Institute, Seton Hall University, 65 Street, Edison, New Jersey 08818, USA. We report a Nigerian family with a late-onset autosomal dominant neuropathy consistent with Charcot-Marie-Tooth disease. Electrophysiological examination of the index patient confirmed a severe demyelinating neuropathy with secondary axonal features. Sequence analysis of the myelin protein zero (MPZ) gene identified a C-to-G transversion at nucleotide position 234, resulting in a serine-to-tryptophan mutation in codon 78 (S78W) of the translated protein. The presence of this novel missense mutation suggests a diagnosis of Charcot-Marie-Tooth disease type 1B. Our study confirms the worldwide distribution of this disorder and extends the genetic spectrum of mutations in the MPZ gene. Quote Link to comment Share on other sites More sharing options...
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