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

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

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...

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Bibliographic Details
Main Authors: Alejandro Leal, Corinna Berghoff, Martin Berghoff, Melissa Rojas-Araya, Carolina Ortiz, Dieter Heuss, Gerardo Del Valle, Bernd Rautenstrauss
Format: Article
Language:English
Published: Vicerractoría Investigación 2014-12-01
Series:Revista de Biología Tropical
Subjects:
Charcot-Marie-Tooth
neuropatía periférica
Proteína Mielina Cero
mutación
Costa Rica
Online Access:http://www.scielo.sa.cr/scielo.php?script=sci_arttext&pid=S0034-77442014000400003&lng=en&tlng=en

Internet

http://www.scielo.sa.cr/scielo.php?script=sci_arttext&pid=S0034-77442014000400003&lng=en&tlng=en

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