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Article

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease.

Arquivos de neuro-psiquiatria - 1 Apr 2010

Grzesiuk Anderson Kuntz, Shinjo Sueli Mieko Oba, da Silva Roseli, Machado Marcela, Galera Marcial Francis, Marie Suely Kazue Nagahashi

Abstract excerpt

UNLABELLED: Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid alpha-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 siblings with Pompe's disease (PD) and their distinct clinical and pathological presentations. METHOD: Diagnosis was...

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Source

Identifiers

PMID: 20464284
DOI: 10.1590/s0004-282x2010000200008

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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