Autosomal Recessive Axonal Form of Charcot-Marie-Tooth Disease Caused by Compound Heterozygous 3′-Splice Site and Ser130Cys Mutation in the GDAP1 Gene - Kabzińska, D; Kochański , A; Drac, H; Ryniewicz, B; Rowińska-Marcińska, K; Hausmanowa-Petrusewicz, I (Neuropediatrics, 2005)