Article
X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.
Journal of the peripheral nervous system : JPNS - 1 Jun 2014
Sagnelli Anna, Piscosquito Giuseppe, Chiapparini Luisa, Ciano Claudia, Salsano Ettore, Saveri Paola, Milani Micaela, Taroni Franco, Pareyson Davide
Abstract excerpt
X-linked Charcot-Marie-Tooth type 1 (CMTX1) is the second most common type of CMT and is caused by mutations in the Gap-Junction Beta-1 gene (GJB1), encoding connexin 32 which is expressed in Schwann cells as well as in oligodendrocytes. More than 400 GJB1 mutations have been described to date. Many mutation-carrier males have subclinical central nervous system (CNS) involvement, a few show mild CNS clinical...
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