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