Article
Molecular mechanisms of gap junction mutations in myelinating cells.
Histology and histopathology - 1 Sept 2010
Sargiannidou Irene, Markoullis Kyriaki, Kleopa Kleopas A
Abstract excerpt
There is an emerging group of neurological disorders that result from genetic mutations affecting gap junction proteins in myelinating cells. The X-linked form of Charcot Marie Tooth disease (CMT1X) is caused by numerous mutations in the GJB1 gene encoding the gap junction protein connexin32 (Cx32), which is expressed in both Schwann cells in the PNS and oligodendrocytes in the CNS. Patients with CMT1X present...
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