Portal de investigación
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Cuesta A
- García-Planells J
- LeGuern E
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.
Datos de la publicación
- ISSN/ISSNe:
- 1061-4036, 1546-1718
- Tipo:
- Article
- Páginas:
- 22-25
- DOI:
- 10.1038/ng798
- PubMed:
- 11743580
- Factor de Impacto:
- 13,168 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
NATURE GENETICS NATURE PORTFOLIO
Citas Recibidas en Web of Science: 275
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Cita
Cuesta A,PEDROLA L,SEVILLA T,García J,CHUMILLAS MJ,MAYORDOMO F,LeGuern E,MARÍN I,VÍLCHEZ JJ,PALAU F. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat. Genet. 2002. 30. (1):p. 22-25. IF:26,711. (1).