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dc.contributor.authorRodríguez Roblero, María Consuelo
dc.contributor.authorTorrealba Acosta, Gabriel
dc.contributor.authorBogantes Ledezma, Sixto
dc.contributor.authorCarazo Céspedes, Kenneth
dc.contributor.authorDesnuelle, Claude
dc.date.accessioned2018-07-26T16:38:30Z
dc.date.available2018-07-26T16:38:30Z
dc.date.issued2017
dc.identifier.issn0960-8966
dc.identifier.urihttp://hdl.handle.net/20.500.11764/687
dc.descriptionARTICULOes_ES
dc.description.abstractGlycogen 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 populationes_ES
dc.description.sponsorshipLos autoreses_ES
dc.language.isoenes_ES
dc.relation.ispartofseriesNeuromuscular Disorders;27; 2017
dc.subjectCOSTA RICAes_ES
dc.subjectREPORTE DE CASOes_ES
dc.subjectENFERMEDAD DEL ALMACENAMIENTO DE GLUCOGENO TIPO IIes_ES
dc.subjectMUTACIONes_ES
dc.titleFirst clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Ricaes_ES
dc.title.alternativeCase Reportes_ES
dc.typeArticlees_ES


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