Article
A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease.
Journal of the neurological sciences - 15 Jul 2013
Shimojima Keiko, Tanaka Ryuta, Shimada Shino, Sangu Noriko, Nakayama Junko, Iwasaki Nobuaki, Yamamoto Toshiyuki
Abstract excerpt
Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating disorder of the central nervous system characterized by nystagmus, motor developmental delay, ataxia, and progressive spasticity. The gap junction protein gamma-2 gene (GJC2), encoding the gap junction protein connexin 47, is one of the genes responsible for this condition. In this study, a novel homozygous mutation in GJC2...
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