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.
Kakar
R
R
Laboratory of Neurogenetics, New Jersey Neuroscience Institute, Seton Hall University, 65 James Street, Edison, New Jersey 08818, USA.
Ma
W
W
Dutra
A
A
Seltzer
W K
WK
Grewal
R P
RP
D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D018993:Myelin P0 Protein / Q000235:genetics*; D009549:Nigeria; D010375:Pedigree; D017354:Point Mutation
D018993:Myelin P0 Protein