Title: | Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations |
Journal : | Scientific Reports, 7 |
Authors: | Abrams CK, Author ; Goman M ; Wong S ; Scherer SS ; Kleopa KA ; Peinado A ; Freidin MM |
Material Type: | Article |
Publication Date: | 2017 |
Languages: | English |
Keywords : | case studies ; central nervous system diseases ; clinical presentation ; CMTX1 ; connexin 32 ; gap junctions ; genetic mutations ; immunofluorescence ; patch clamp |
Pubmed / DOI : | DOI : 10.1038/srep40166 / Pubmed : 28071741 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28071741 |