Article
A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.
Journal of the peripheral nervous system : JPNS - 1 Mar 2011
Murphy Sinéad M, Polke James, Manji Hadi, Blake Julian, Reiniger Lilla, Sweeney Mary, Houlden Henry, Brandner Sebastian, Reilly Mary M
Abstract excerpt
X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene which codes for connexin 32 (CX32). CX32 has three tissue-specific promoters, P1 which is specific for liver and pancreas, P1a specific for liver, oocytes and embryonic stem cells, and P2 which is nerve-specific. Over 300 mutations have been...
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