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

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

Content Provider	Semantic Scholar
Author	Leal, Alejandro Berghoff, Corinna Berghoff, Martin Rojas-Araya, Melissa Carolina, Ortíz Casallas Diana Heuß, Dieter F. Valle, Gerardo Del Rautenstrauss, Bernd
Copyright Year	2014
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.
File Format	PDF HTM / HTML
DOI	10.15517/rbt.v62i4.13473
PubMed reference number	25720167
Journal	Medline
Volume Number	62
Issue Number	4
Alternate Webpage(s)	http://www.redalyc.org/pdf/449/44932429003.pdf
Alternate Webpage(s)	http://www.scielo.sa.cr/pdf/rbt/v62n4/a03v62n4.pdf
Alternate Webpage(s)	https://revistas.ucr.ac.cr/index.php/rbt/article/download/13473/15459
Alternate Webpage(s)	https://doi.org/10.15517/rbt.v62i4.13473
Journal	Revista de biologia tropical
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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