Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil

Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil

OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family. METHOD: Family composed of two consanguineous...

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Main Authors: Eugênia Ribeiro Valadares, Mayara Xavier Pizarro, Luiz Roberto Oliveira, Regina Helena Caldas de Amorim, Tarcísio Márcio Magalhães Pinheiro, Ulrike Grieben, Helena Hollanda Santos, Rachel Rabelo Queiroz, Guilherme de Castro Lopes, Ana Lúcia Brunialti Godard
Format: Article
Language:English
Published: Thieme Revinter Publicações 2011-02-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
doença de Batten
lipofuscinoses ceróides neuronais
reação em cadeia da polimerase
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000100004&lng=en&tlng=en
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