Revista de Biología Tropical ISSN Impreso: 0034-7744 ISSN electrónico: 2215-2075

OAI: https://www.revistas.ucr.ac.cr/index.php/rbt/oai
Una familia costarricense afectada por la enfermedad de Charcot-Marie-Tooth, debido a la mutación p.thr124Met en la proteína mielina cero (MPZ) compartida con el haplotipo belga
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Keywords

Charcot-Marie-Tooth
neuropatía periférica
Proteína Mielina Cero
mutación
Costa Rica.
Charcot-Marie-Tooth
peripheral neuropathy
Myelin protein zero
mutation
Costa Rica

How to Cite

Leal, A., Berghoff, C., Berghoff, M., Rojas-Araya, M., Ortiz, C., Heuss, D., & Rautenstrauss, B. (2014). Una familia costarricense afectada por la enfermedad de Charcot-Marie-Tooth, debido a la mutación p.thr124Met en la proteína mielina cero (MPZ) compartida con el haplotipo belga. Revista De Biología Tropical, 62(4), 1285–1293. https://doi.org/10.15517/rbt.v62i4.13473

Abstract

La mutación p.thr124Met en la proteína mielina cero (MPZ) causa la enfermedad de Charcot-Marie-Tooth tipo 2J, una neuropatía periférica con síntomas adicionales como alteraciones pupilares y sordera. Se ha observado en varias familias alrededor del mundo, originarias de Alemania, Bélgica, Japón, Italia y Norteamérica, entre otras. Aquí reportamos a pacientes centroamericanos provenientes de Costa Rica que acarrean esta mutación. Se realizaron análisis clínico, electrofisiológico y molecular de pacientes y controles, incluyendo secuenciación del gen y de marcadores ligados a éste. Estos pacientes comparten casi por completo el haplotipo con dos pacientes belgas no emparentados. Como resultado del análisis de los haplotipos, basado en diez marcadores (siete SNPs, dos microsatélites y un elemento poli-A intrónico), se sugiere que se ha dado un efecto fundador en la migración de este alelo.
https://doi.org/10.15517/rbt.v62i4.13473
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