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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

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.[1]

References

  1. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Cuesta, A., Pedrola, L., Sevilla, T., García-Planells, J., Chumillas, M.J., Mayordomo, F., LeGuern, E., Marín, I., Vílchez, J.J., Palau, F. Nat. Genet. (2002) [Pubmed]
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