A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32

Abstract

X-linked Charcot-Marie-Tooth disease (CMTX1) results from numerous mutations in the GJB1 gene encoding the gap junction protein connexin32 (Cx32) and is one of the commonest forms of inherited neuropathy. Owing to the expression of Cx32 not only in Schwann cells but also in oligodendrocytes, a subset of CMT1X patients develops central nervous system (CNS… (More)
DOI: 10.1007/s10048-015-0442-4

Topics

3 Figures and Tables

Cite this paper

@article{Sargiannidou2015ASC, title={A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32}, author={Irene Sargiannidou and Gun-Ha Kim and Styliana Kyriakoudi and Baik-Lin Eun and Kleopas A Kleopa}, journal={neurogenetics}, year={2015}, volume={16}, pages={193-200} }