The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. |
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| Authors: | Ana Cuesta Laia Pedrola Teresa Sevilla Javier García-Planells María José Chumillas Fernando Mayordomo Eric LeGuern Ignacio Marín Juan J Vílchez Francesc Palau |
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| Affiliation: | Laboratory of Genetics and Molecular Medicine, Instituto de Biomedicina, Consejo Superior de Investigaciones Científicas (CSIC), 46010 Valencia, Spain. |
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| 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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