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26. Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. Kabzińska D; Saifi GM; Drac H; Rowińska-Marcińska K; Hausmanowa-Petrusewicz I; Kochański A; Lupski JR Acta Myol; 2007 Oct; 26(2):108-11. PubMed ID: 18421898 [TBL] [Abstract][Full Text] [Related]
27. Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation. Boaretto F; Vettori A; Casarin A; Vazza G; Muglia M; Rossetto MG; Cavallaro T; Rizzuto N; Carelli V; Salviati L; Mostacciuolo ML; Martinuzzi A Neurology; 2010 Jun; 74(23):1919-21. PubMed ID: 20530328 [No Abstract] [Full Text] [Related]
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34. A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients. Choi BO; Nakhro K; Park HJ; Hyun YS; Lee JH; Kanwal S; Jung SC; Chung KW Clin Genet; 2015 Jun; 87(6):594-8. PubMed ID: 24863639 [TBL] [Abstract][Full Text] [Related]
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36. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Züchner S; Mersiyanova IV; Muglia M; Bissar-Tadmouri N; Rochelle J; Dadali EL; Zappia M; Nelis E; Patitucci A; Senderek J; Parman Y; Evgrafov O; Jonghe PD; Takahashi Y; Tsuji S; Pericak-Vance MA; Quattrone A; Battaloglu E; Polyakov AV; Timmerman V; Schröder JM; Vance JM Nat Genet; 2004 May; 36(5):449-51. PubMed ID: 15064763 [No Abstract] [Full Text] [Related]
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40. Localization of PMP-22 gene (candidate gene for the Charcot-Marie-Tooth disease 1A) to band 17p11.2 by direct R-banding fluorescence in situ hybridization. Takahashi E; Takeda O; Himoro M; Nanao K; Takada G; Hayasaka K Jpn J Hum Genet; 1992 Dec; 37(4):303-6. PubMed ID: 1297450 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]