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Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease
Mutations in the mitochondrial protein GDAP1 are the cause of Charcot-Marie-Tooth type 4A disease (CMT4A), a severe form of peripheral neuropathy associated with either demyelinating, axonal or intermediate pheno-types. GDAP1 is located in the outer mitochondrial membrane and it seems that may be re...
Autores principales: | Pedrola, Laia, Espert, Antonio, Valdés-Sánchez, Teresa, Sánchez-Piris, Maribel, Sirkowski, Erich E, Scherer, Steven S, Fariñas, Isabel, Palau, Francesc |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2570022/ https://www.ncbi.nlm.nih.gov/pubmed/18021315 http://dx.doi.org/10.1111/j.1582-4934.2007.00158.x |
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