Abstract
We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families—two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.
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Acknowledgements
This work was supported by grants from the National Institutes of Health. We would like to thank S. Stinnett at GlaxoSmithKline, RTP, for technical assistance in helping construct the shotgun sequence.
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Baxter, R., Ben Othmane, K., Rochelle, J. et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 30, 21–22 (2002). https://doi.org/10.1038/ng796
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DOI: https://doi.org/10.1038/ng796
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