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Clinical and genetic analysis of CMT1B in a Nigerian family
Author(s) -
Kakar R.,
Ma W.,
Dutra A.,
Seltzer W.K.,
Grewal R.P.
Publication year - 2003
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10344
Subject(s) - missense mutation , transversion , genetics , mutation , gene , biology , medicine
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