Clinical and genetic analysis of CMT1B in a Nigerian family. |
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Authors: | R Kakar W Ma A Dutra W K Seltzer R P Grewal |
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Institution: | Laboratory of Neurogenetics, New Jersey Neuroscience Institute, Seton Hall University, 65 James Street, Edison, New Jersey 08818, USA. |
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Abstract: | 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. |
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Keywords: | Charcot‐Marie‐Tooth disease type1B genetic neuropathy myelin protein zero gene point mutation |
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