Article
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
Neurogenetics - 1 Aug 2003
Leal Alejandro, Berghoff Corinna, Berghoff Martin, Del Valle Gerardo, Contreras Carlos, Montoya Olga, Hernández Erick, Barrantes Ramiro, Schlötzer-Schrehardt Ursula, Neundörfer Bernhard, Reis André, Rautenstrauss Bernd, Heuss Dieter
Abstract excerpt
Charcot-Marie-Tooth disease type 1B (CMT 1B) is caused by mutations in the gene coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion and compaction of peripheral myelin. Here we report a Costa Rican family with a hereditary peripheral neuropathy due to a n...
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