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Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy.
M Muglia, M Zappia, V Timmerman, P Valentino, A L Gabriele, F L Conforti, P De Jonghe, M Ragno, R Mazzei, M Sabatelli, G Nicoletti, A M Patitucci, R L Oliveri, F Bono, A Gambardella, A Quattrone,
The authors report a large pedigree from southern Italy with Charcot-Marie-Tooth disease type 2A (CMT2A). The clinical picture was uniform and characterized by distal muscular weakness and atrophy in the lower limbs, reduced or absent tendon reflexes mainly in the lower limbs, and mild sensory impairment in the feet. Significant linkage to the CMT2A locus on chromosome 1p35-p36 was detected. Based on informative recombination in affected individuals, the authors mapped the CMT2A gene between D1S160 and D1S170.
Neurology - Jan 2001
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
Judith Calvo, Benoît Funalot, Robert A Ouvrier, Leila Lazaro, Annick Toutain, Philippe De Mas, Pierre Bouche, Brigitte Gilbert-Dussardier, Marie-Christine Arne-Bes, Jean-Pierre Carrière, Hubert Journel, Marie-Christine Minot-Myhie, Claire Guillou, Karima Ghorab, Laurent Magy, Franck Sturtz, Jean-Michel Vallat, Corinne Magdelaine,
Mutations in the gene encoding mitofusin 2 (MFN2) cause Charcot-Marie-Tooth disease type 2 (CMT2), with heterogeneity concerning severity and associated clinical features.
Archives of neurology - Dec 2009