| dc.contributor.author | Rodríguez Roblero, María Consuelo | |
| dc.contributor.author | Torrealba Acosta, Gabriel | |
| dc.contributor.author | Bogantes Ledezma, Sixto | |
| dc.contributor.author | Carazo Céspedes, Kenneth | |
| dc.contributor.author | Desnuelle, Claude | |
| dc.date.accessioned | 2018-07-26T16:38:30Z | |
| dc.date.available | 2018-07-26T16:38:30Z | |
| dc.date.issued | 2017 | |
| dc.identifier.issn | 0960-8966 | |
| dc.identifier.uri | http://hdl.handle.net/20.500.11764/687 | |
| dc.description | ARTICULO | es_ES |
| dc.description.abstract | 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 weaknes s, recurrent episodes of respiratory failure associated with pneumonia, a predominantly demyelinating mixed sensorimotor polyneuropathy and paraspinal complex repetitive discharges. Genetic analysis of the GAA gene from this patient revealed two pathogenic compound heterozygous mutations: c.-32-13T>G (rs386834236, intronic), c.2560C>T (rs121907943, p.Arg854Ter); and one variant of unknown significance: c.1551+42G>A (rs115427918, intronic).We found expected mutations in two siblings and two nieces. Genetic variants reported in this family reflect on the European and African ancestry that we carry in our Costa Rican population | es_ES |
| dc.description.sponsorship | Los autores | es_ES |
| dc.language.iso | en | es_ES |
| dc.relation.ispartofseries | Neuromuscular Disorders;27; 2017 | |
| dc.subject | COSTA RICA | es_ES |
| dc.subject | REPORTE DE CASO | es_ES |
| dc.subject | ENFERMEDAD DEL ALMACENAMIENTO DE GLUCOGENO TIPO II | es_ES |
| dc.subject | MUTACION | es_ES |
| dc.title | First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica | es_ES |
| dc.title.alternative | Case Report | es_ES |
| dc.type | Article | es_ES |
