{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:16:31Z","timestamp":1791288991862,"version":"4.3.0"},"reference-count":40,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,8,28]],"date-time":"2018-08-28T00:00:00Z","timestamp":1535414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004329","name":"Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe disease (PD) is caused by a deficiency of lysosomal acid \u03b1\u2010glucosidase resulting from mutations in the<jats:italic>GAA<\/jats:italic>gene. The clinical spectrum ranges from a rapidly fatal multisystemic disorder (classic PD, onset\u2009&lt;\u20091 year) to a milder adult onset myopathy. The aims of this study were to characterize the<jats:italic>GAA<\/jats:italic>mutations, to establish the disease epidemiology, and to identify potential genotype\u2010phenotype correlations in French late\u2010onset PD patients (onset\u2009\u2265\u20092 years) diagnosed since the 1970s. Data were collected from the two main laboratories involved in PD diagnosis and from the French Pompe registry. Two hundred forty\u2010six patients (130 females and 116 males) were included, with a mean age at diagnosis of 43 years. Eighty\u2010three different mutations were identified in the<jats:italic>GAA<\/jats:italic>gene, among which 28 were novel. These variants were spread all over the sequence and included 42 missense (one affecting start codon), 8 nonsense, 15 frameshift, 14 splice mutations, 3 small in\u2010frame deletions, and one large deletion. The common c.\u201032\u201013T&gt;G mutation was detected in 151\/170 index cases. Other frequent mutations included the exon 18 deletion, the c.525del, and the missense mutations c.1927G&gt;A (p.Gly643Arg) and c.655G&gt;A (p.Gly219Arg). Patients carrying the c.\u201032\u201013T&gt;G mutation had an older mean age at onset than patients non\u2010exhibiting this mutation (36 versus 25 years). Patients with the same genotype had a highly variable age at onset. We estimated the frequency of late\u2010onset PD in France around 1\/69,927 newborns. In conclusion, we characterized the French cohort of late\u2010onset PD patients through a nationwide study covering more than 40 years.<\/jats:p>","DOI":"10.1007\/s10545-018-0243-7","type":"journal-article","created":{"date-parts":[[2018,8,29]],"date-time":"2018-08-29T16:08:53Z","timestamp":1535558933000},"page":"937-946","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Late\u2010onset Pompe disease in France: molecular features and epidemiology from a nationwide study"],"prefix":"10.1002","volume":"41","author":[{"given":"Claudio","family":"Semplicini","sequence":"first","affiliation":[{"name":"Department of Neurosciences University of Padova Azienda Ospedaliera di Padova Padova Italy"},{"name":"Centre de r\u00e9f\u00e9rence des pathologies neuromusculaires Nord\u2010Est\u2010Ile de France H\u00f4pital La Piti\u00e9\u2010Salp\u00eatri\u00e8re, AP\u2010HP Paris 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