First clinical and genetic description of a family diagnosed with late-onset pompe disease from costa rica

Highlights • This is the first clinical and genetic description of Pompe disease in a family from Costa Rica. • Recurrent respiratory failure and paraspinal complex repetitive discharges suggest LOPD diagnosis. • GAA mutations found in our patients reflect on a European and African ancestry.

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2017-10, Vol.27 (10), p.951-955
Main Authors: Torrealba-Acosta, Gabriel, Rodríguez-Roblero, María Consuelo, Bogantes-Ledezma, Sixto, Carazo-Céspedes, Kenneth, Desnuelle, Claude
Format: Article
Language:English
Subjects:
Age of Onset
alpha-Glucosidases - genetics
c.-32-13T>G mutation
c.1551+42G>A mutation
c.2560C>T mutation
Costa Rica
Costa Rican family
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Testing - methods
Glycogen storage disease type II
Glycogen Storage Disease Type II - diagnosis
Glycogen Storage Disease Type II - genetics
Humans
Late-onset Pompe disease
Male
Middle Aged
Mutation - genetics
Neurology
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Summary:Highlights • This is the first clinical and genetic description of Pompe disease in a family from Costa Rica. • Recurrent respiratory failure and paraspinal complex repetitive discharges suggest LOPD diagnosis. • GAA mutations found in our patients reflect on a European and African ancestry.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2017.06.010