Article
Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis.
Neuromuscular disorders : NMD - 1 Jun 1999
Takashima H, Nakagawa M, Kanzaki A, Yawata Y, Horikiri T, Matsuzaki T, Suehara M, Izumo S, Osame M
Abstract excerpt
We report on two sisters with Dejerine-Sottas syndrome (DSS) who had a heterozygous Gly 167 Arg mutation in the myelin protein zero (MPZ) gene and hereditary stomatocytosis (HSt). Genetic haplotype analysis suggested that the allele with the MPZ gene mutation originated from maternal lineage. However, the parents, who were normal clinically and electrophysiologically, had no mutation in the MPZ gene. Therefore,...
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