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References

These sources were used to develop the Genetics Home Reference gene summary on the GJB1 gene.

Abrams CK, Oh S, Ri Y, Bargiello TA. Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease. Brain Res Brain Res Rev. 2000 Apr;32(1):203-14. Review. PubMed citation
Baker SK, Reith CC, Ainsworth PJ. Novel 95G>A (R32K) somatic mosaic connexin 32 mutation. Muscle Nerve. 2008 Nov;38(5):1510-4. doi: 10.1002/mus.21145. PubMed citation
Entrez Gene
Kleopa KA, Scherer SS. Molecular genetics of X-linked Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):107-22. Review. PubMed citation
Kochański A, Kabzińska D. Molecular genetic analysis of the GJB1 gene: a study of six mutations. J Appl Genet. 2004;45(1):95-100. PubMed citation
Mandich P, Grandis M, Geroldi A, Acquaviva M, Varese A, Gulli R, Ciotti P, Bellone E. Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease. J Hum Genet. 2008;53(6):529-33. doi: 10.1007/s10038-008-0280-4. Epub 2008 Apr 1. PubMed citation
Mazzeo A, Di Leo R, Toscano A, Muglia M, Patitucci A, Messina C, Vita G. Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation. Eur J Neurol. 2008 Oct;15(10):1140-2. doi: 10.1111/j.1468-1331.2008.02263.x. Epub 2008 Aug 20. PubMed citation
Ressot C, Bruzzone R. Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease. Brain Res Brain Res Rev. 2000 Apr;32(1):192-202. Review. PubMed citation
Sargiannidou I, Vavlitou N, Aristodemou S, Hadjisavvas A, Kyriacou K, Scherer SS, Kleopa KA. Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects. J Neurosci. 2009 Apr 15;29(15):4736-49. doi: 10.1523/JNEUROSCI.0325-09.2009. PubMed citation
Wang HL, Chang WT, Yeh TH, Wu T, Chen MS, Wu CY. Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease. Neurobiol Dis. 2004 Mar;15(2):361-70. PubMed citation
Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review. PubMed citation
Zambelis T, Panas M, Kokotis P, Karadima G, Kararizou E, Karandreas N. Central motor and sensory pathway involvement in an X-linked Charcot-Marie-Tooth family. Acta Neurol Belg. 2008 Jun;108(2):44-7. PubMed citation


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