Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease Mutação homozigótica intrônica no gene GAA em três irmãos com doença de Pompe de início tardio

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease Mutação homozigótica intrônica no gene GAA em três irmãos com doença de Pompe de início tardio

Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the age of onset and symptoms. In this study were analyzed affected sibling...

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Bibliographic Details
Main Authors: Anderson Kuntz Grzesiuk, Sueli Mieko Oba Shinjo, Roseli da Silva, Marcela Machado, Marcial Francis Galera, Suely Kazue Nagahashi Marie
Format: Article
Language:English
Published: Thieme Revinter Publicações 2010-04-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
doença de Pompe
mutação
glicogenose
glycogen storage disease type II
mutation
Pompe disease
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000200008
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