Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman

Nicholson G, Nash J (1993) Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 43:2558–2564. doi: 10.1385/NMM:8:1-2:123

Kleopa KA, Scherer SS (2006) Molecular genetics of X-linked Charcot-Marie-Tooth disease. Neuromolecular Med 8:107–22. doi: 10.1385/NMM:8:1-2:107

Mandlich P, Grandis M, Geroldi A, Acquaviva M, Varese A, Gulli R, Ciotti P, Bellone E (2008) Gab junction beta 1 (GJB1) gene mutation in Italian patients with X-linked Charcot-Marie-Tooth disease. J Hum Genet 53:529–533. doi: 10.1007/s10038-008-0280-4

Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993) Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262:2039–2042. doi: 10.1126/science.8266101

Bone LJ, Deschenes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS (1997) Connexin 32 and X-linked Charcot-Marie-Tooth disease. Neurobiol Dis 4:221–244. doi: 10.1006/nbdi.1997.0152

Scherer SS, Xu YT, Nelles E, Fischbeck K, Willecke K, Bone LJ (1998) Connexin 32-null mice develop a demyelinating peripheral neuropathy. Glia 24:8–20. doi: 10.1002/(SICI)1098-1136(199809)24:1<8::AID-GLIA2>3.0.CO;2–3

Baker SK, Reith CC, Ainsworth PJ (2008) Novel 95G > A (R32K) somatic mosaic connexin 32 mutation. Muscle Nerve 38(5):1510–4. doi: 10.1002/mus.21145

Brožková D, Mazanec R, Haberlová J, Sakmaryová I, Šubrt I, Seeman P (2010) Six New Gap Junction Beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease. Genet Testing Mol Biomarkers 14(1):1–5. doi: 10.1089=gtmb.2009.0093

Kochanski A, Nowakowski A, Kawulak M, Kabzińska D, Hausmanowa-Petrusewicz I (2004) Somatic mosaicism in Charcot-Marie-Tooth type X disease. Neurology 27(62):336–337. doi: 10.1212/01.WNL.0000103441.52563.02

Li QH, Liu KX, Feng JL, Zeng AY, Li H, Wu L, Tang YG, Chen ML, Lin XH, Jiang JZ (2010) A new mutation in the GJB1 gene of a Chinese family with Charcot-Marie-Tooth disease associated with vocal cord paresis. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27(5):497–500. doi: 10.3760/cma.j.issn.1003-9406.2010.05.005

Zlotogora J (1998) Germ-line mosaicism. Hum Genet 102(4):381–6. doi: 10.1007/s004390050708

Chial H (2008) Somatic mosaicism and chromosomal disorders. Nat Educ 1:1. http://www.nature.com/scitable/topicpage/somatic-mosaicism-and-chromosomal-disorders-867

Seeman P, Mazanec R, Zidar J, Hrusáková S, Čtvrtečková M, Rautenstrauss B (2000) Charcot-Marie-Tooth disease type A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs. Int J Mo Med 6:421–426

Youssoufian H, Pyeritz RE (2002) Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 3:748–758. doi: 10.1038/nrg906

Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Léger JM, Agid Y, Brice A, Bouche P (1998) X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology 50(4):1074–1082. doi: 10.1212/WNL.50.4.1074

Hahn AF, Bolton CF, White CM, Brown WF, Tuuhe SE, Tan CC, Ainworth PJ (1999) Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease. Ann N Y Acad Sci 8883:366–383. doi: 10.1111/j.1749-6632.1999.tb08598.x