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

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  • This work was supported by Spanish Ministry of Science and Technology grants SAF2000-0082-C02-01 and SAF2003-00135, Fundació “la Caixa” grant 02-004, Instituto de Salud Carlos III grant G03/56 for the Spanish Network on Cerebellar Ataxias, and the GIS-Maladies Rares Consortium on Autosomal Recessive CMT. RC is a predoctoral fellow receiving the Fundació “la Caixa” grant and LP is a recipient of a predoctoral fellowship from the Spanish Ministry of Science and Technology.

  • Competing interests: the authors declare that they have no competing financial interests.