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First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.

Neuromuscular disorders : NMD - 1 Oct 2017

Torrealba-Acosta Gabriel, Rodríguez-Roblero María Consuelo, Bogantes-Ledezma Sixto, Carazo-Céspedes Kenneth, Desnuelle Claude

Abstract excerpt

Glycogen storage disease type II, also known as Pompe disease, is an autosomal recessive disorder caused by deficiency of enzymatic activity of acid alpha-glucosidase. The wide phenotypical variation of this disease relates to the amount of residual enzymatic activity depending on the combination of mutations on each allele. We confirmed Pompe disease in a patient that presented with progressive weakness,...

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Source

Identifiers

PMID: 28694071
DOI: 10.1016/j.nmd.2017.06.010

Genes

GAA

Variants

rs386834236
rs121907943

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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