Article
X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association.
Journal of neurology, neurosurgery, and psychiatry - 1 Feb 2019
Koutsis Georgios, Breza Marianthi, Velonakis Georgios, Tzartos John, Kasselimis Dimitrios, Kartanou Chrisoula, Karavasilis Efstratios, Tzanetakos Dimitrios, Anagnostouli Maria, Andreadou Elisavet, Evangelopoulos Maria-Eleftheria, Kilidireas Constantinos, Potagas Constantin, Panas Marios, Karadima Georgia
Abstract excerpt
OBJECTIVE: X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary neuropathy caused by mutations in GJB1 coding for connexin-32, a gap junction protein expressed in Schwann cells, but also found in oligodendrocytes. Four patients with CMTX developing central nervous system (CNS) demyelination compatible with multiple sclerosis (MS) have been individually published. We presently sought to systematically...
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