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Article

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Orphanet journal of rare diseases - 17 Nov 2017

Johnson Katherine, Töpf Ana, Bertoli Marta, Phillips Lauren, Claeys Kristl G, Stojanovic Vidosava Rakocevic, Perić Stojan, Hahn Andreas, Maddison Paul, Akay Ela, Bastian Alexandra E, Łusakowska Anna, Kostera-Pruszczyk Anna, Lek Monkol, Xu Liwen, MacArthur Daniel G, Straub Volker

Abstract excerpt

BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessible dried blood spot test when Pompe disease is suspected. Like several neuromuscular disorders, Pompe disease typically presents...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophies, Limb-Girdle

Source

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Identifiers

PMID: 29149851
DOI: 10.1186/s13023-017-0722-1
PMCID: PMC5693551

Genes

GAA

Variants

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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