| 1 | CMT2K, CMT4A, GDAP1
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| Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
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| Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, Hausmanowa-Petrusewicz I, Niemann A, Kochański A, De Jonghe P, Jordanova A.
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| Neurology 77(6):540-8. Epub 2011 Jul 13. 2011
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| 2 | CMT2K, GDAP1
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| The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.
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| Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT.
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| J Med Genet 47(10):712-6. Epub 2010 Aug 3.
2010
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| 3 | CMT2K, CMT4A, GDAP1
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| GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.
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| Niemann A, Wagner KM, Ruegg M, Suter U.
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| Neurobiol Dis 36(3):509-20. Epub 2009 Sep 25.PMID: 19782751 2009
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| 4 | CMT2K, GDAP1
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| Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).
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| Sahin-Calapoglu N, Tan M, Soyoz M, Calapoglu M, Ozcelik N.
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| Neuromolecular Med 11(2):106-13. Epub 2009 Apr 19.PMID: 19381883 2009
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| 5 | CMT2K, GDAP1
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| A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.
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| Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H.
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| Clin Genet 74(3):274-8. Epub 2008 May 19.
2008
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| 6 | GDAP1, CMT4A, CMT2K
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| GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
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| Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Manganelli F, Santoro L, Schenone A, Bellone E, Minetti C.
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| J Neurol 253(9):1234-5. Epub 2006 Apr 10. No abstract available. 2006
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| 7 | CMT2K, GDAP1
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| Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
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| Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Le Guern E.
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| Arch Neurol 60(4):598-604. 2003
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| 8 | CMT2K, CMT4A, GDAP1
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| Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
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| Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vilchez JJ.
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| Brain 126(Pt 9):2023-33. Epub 2003 Jun 23. 2003
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