Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

In conclusion, our clinical and molecular findings confirmed the genotype-phenotype relationship between mutations in the GJC2 and PMLD1. The novel mutations of GJC2 described herein will help to further understand the pathogenic mechanism underlying PMLD1.
PMID: 31270756 [PubMed - as supplied by publisher]

Source: Molecular Biology Reports - July 2, 2019 Category: Molecular Biology Authors: Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J Tags: Mol Biol Rep Source Type: research