Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

Resumen

We are grateful for the kind collaboration of patients and families. We also thank Dr E Nelis and Dr V Timmerman for providing DNA samples from family PN860.\nThis work was supported by Spanish Ministry of Science and Technology grants SAF2000-0082-C02-01 and SAF2003-00135, Fundacio¿ ``la Caixa¿¿ grant 02-004, Instituto de Salud Carlos III grant G03/56 for the\nSpanish Network on Cerebellar Ataxias, and the GIS-Maladies Rares Consortium on Autosomal Recessive CMT. RC is a predoctoral fellow receiving the Fundacio¿ ``la Caixa¿¿ grant and LP is a recipient of a predoctoral fellowship from the Spanish Ministry of Science and Technology.