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Article

Presymptomatic late-onset Pompe disease identified by the dried blood spot test.

Neuromuscular disorders : NMD - 1 Jan 2013

Wagner Matias, Chaouch Amina, Müller Juliane S, Polvikoski Tuomo, Willis Tracey A, Sarkozy Anna, Eagle Michelle, Bushby Kate, Straub Volker, Lochmüller Hanns

Abstract excerpt

Pompe disease or glycogen storage disease type II is an autosomal recessive disorder caused by mutations in the GAA gene leading to muscle weakness. Here we describe a 15 years old presymptomatic patient with normal muscle MRI, unspecific muscle biopsy findings but abnormal acid maltase activity in a dried blood spot test. Sequencing the GAA-gene identified a heterozygous novel splice-site and a heterozygous...

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Source

Identifiers

PMID: 23062590
DOI: 10.1016/j.nmd.2012.09.004

Genes

GAA

Provenance

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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