Article
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
European journal of human genetics : EJHG - 1 Jan 2013
Biancheri Roberta, Rosano Camillo, Denegri Laura, Lamantea Eleonora, Pinto Francesca, Lanza Federica, Severino Mariasavina, Filocamo Mirella
Abstract excerpt
Homozygous or compound heterozygous mutations in the GJC2 gene, encoding the gap junction protein connexin47 (Cx47), cause the autosomal recessive hypomyelinating Pelizaeus-Merzbacher-like disease (PMLD1, MIM# 608804). Although clinical and neuroradiological findings resemble those of the classic Pelizaeus-Merzbacher disease, PMLD patients usually show a greater level of cognitive and motor functions....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.