Abstract
We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.
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Acknowledgements
We thank the members of the three families for their collaboration. We also thank G. López-Carballo and D. Barettino for help with northern blot experiments, A. Díez-Juan for preparing mouse tissues, J. Carmona for collaboration in the artwork design and P. González-Cabo and R. Vázquez-Manrique for discussions. A.C. is the recipient of a predoctoral fellowship from the Instituto de Salud Carlos III, and L.P. is the recipient of a fellowship from the Fundació Karl Faust, Estació Internacional de Biologia Mediterrànea, and a predoctoral fellowship from the Spanish Ministry of Science and Technology. This work was supported by grants from the Comisión Interministerial de Ciencia y Tecnología and the Fondo de Investigación Sanitaria. E.L. and F.P. are members of the European CMT Consortium (Biomed 2 concerted action CT961614).
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Cuesta, A., Pedrola, L., Sevilla, T. et al. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 30, 22–25 (2002). https://doi.org/10.1038/ng798
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DOI: https://doi.org/10.1038/ng798
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