Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease

CMTX, the X-linked form of Charcot-Marie-Tooth disease, is an inherited peripheral neuropathy arising in patients with mutations in the gene encoding the gap junction protein connexin 32 (Cx32). In this communication, we describe the expression levels and biophysical parameters of seven mutant forms...

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Veröffentlicht in:Brain Res
Hauptverfasser: Abrams, Charles K., Freidin, Mona M., Verselis, Vytas K., Bennett, Michael V.L., Bargiello, Thaddeus A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2001
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4517190/
https://ncbi.nlm.nih.gov/pubmed/11325342
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