{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:14:27Z","timestamp":1777803267352,"version":"3.51.4"},"reference-count":8,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2010,3,29]],"date-time":"2010-03-29T00:00:00Z","timestamp":1269820800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2010,8]]},"abstract":"<jats:p>Pompe disease or glycogen-storage disease type 2 (GSD2, OMIM 232300) is an autosomal recessive disorder caused by mutations in the acid \u03b1-glucosidase gene. Late-onset GSD2 resembles some limb-girdle and Becker muscular dystrophies. The screening of GSD2 through the measurement of acid \u03b1-glucosidase activity in dried blood spots was applied to a selected sample of 5 Mexican patients with proximal myopathies of unknown etiology. Only 1 male patient showed a low level of acid \u03b1-glucosidase activity and a compound heterozygote genotype for the c.-32-13T&gt;G splicing mutation present in most white late-onset Pompe disease cases and the novel mutation p.C558S. To our knowledge, this is the first report of a Mexican patient with late-onset GSD2. The identification of c.-32-13T&gt;G in our patient could reflect the genetic contribution of European ancestry to the Mexican population. The enzymatic screening of GSD2 could be justified in patients with myopathies of unknown etiology.<\/jats:p>","DOI":"10.1177\/0883073809356035","type":"journal-article","created":{"date-parts":[[2010,3,29]],"date-time":"2010-03-29T23:42:13Z","timestamp":1269906133000},"page":"1034-1037","source":"Crossref","is-referenced-by-count":5,"title":["Screening of Late-Onset Pompe Disease in a Sample of Mexican Patients With Myopathies of Unknown Etiology: Identification of a Novel Mutation in the Acid \u03b1-Glucosidase Gene"],"prefix":"10.1177","volume":"25","author":[{"given":"Miguel Angel","family":"Alc\u00e1ntara-Ortigoza","sequence":"first","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Departamento de Gen\u00e9tica Humana, Instituto Nacional de Pediatr\u00eda, M\u00e9xico,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariadna","family":"Gonz\u00e1lez-del Angel","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Departamento de Gen\u00e9tica Humana, Instituto Nacional de Pediatr\u00eda, M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rehotbevely","family":"Barrientos-R\u00edos","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Departamento de Gen\u00e9tica Humana, Instituto Nacional de Pediatr\u00eda, M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Courtney","family":"Cupples","sequence":"additional","affiliation":[{"name":"Genzyme M\u00e9xico S. de R. 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