Home Publications Research Grants Inventions & Patents Awards Additional Research Activities Faculties & Institutions Research Areas

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

Leal A, Berghoff C, Berghoff M, Rojas-Araya M, Ortiz C, Heuss D, Del Valle G, Rautenstrauß B (2014)

---

Publication Type: Journal article

Publication year: 2014

Journal

Publisher: Universidad de Costa Rica

Book Volume: 62

Pages Range: 1285-93

Journal Issue: 4

Abstract

The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families around the world originating e. g. from Germany, Belgium, Japan, Italy and North America. Here we report Central American patients originating from a family in Costa Rica carrying this mutation. Clinical, electrophysiological and molecular analysis of patients and controls were performed, including gene and linked markers' sequencing. Carriers share almost the entire haplotype with two non related Belgian CMT patients. As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch), the founder effect hypothesis for this allele migration is suggestive.

Involved external institutions

How to cite

APA:

Leal, A., Berghoff, C., Berghoff, M., Rojas-Araya, M., Ortiz, C., Heuss, D.,... Rautenstrauß, B. (2014). A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype. Revista De Biologia Tropical, 62(4), 1285-93.

MLA:

Leal, Alejandro, et al. "A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype." Revista De Biologia Tropical 62.4 (2014): 1285-93.

BibTeX: Download