| 1 | CMT4H, FGD4
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| Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.
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| Fabrizi GM, Taioli F, Cavallaro T, Ferrari S, Bertolasi L, Casarotto M, Rizzuto N, Deconinck T, Timmerman V, De Jonghe P.
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| Neurology 72(13):1160-4.
2009
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| 2 | CMT4H, FGD4
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| A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.
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| Houlden H, Hammans S, Katifi H, Reilly MM.
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| Neurology 72(7):617-20.
2009
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| 3 | CMT4H,FGD4
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| Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4.
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| Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, Jonghe PD, Weis J, Kruttgen A, Rudnik-Schoneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J.
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| Am J Hum Genet 81(1):158-64. Epub 2007 May 24. 2007
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| 4 | CMT4H, FGD2, FGD4
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| Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.
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| Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Megarbane A, Haase G, Levy N.
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| Am J Hum Genet 81(1):1-16. Epub 2007 May 15. 2007
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| 5 | CMT4H
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| Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11.
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| Sandre-Giovannoli AD, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Megarbane A, Levy N.
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| J Med Genet 42(3):260-5. No abstract available. 2005
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