Clinical and genetic analysis of CMT1B in a Nigerian family

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. Muscle Nerve 27: 628–630, 2003