{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T01:35:45Z","timestamp":1792460145811,"version":"4.5.0"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,2,3]],"date-time":"2017-02-03T00:00:00Z","timestamp":1486080000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Pompe disease is characterized by absence or deficiency of acid \u03b1\u2010glucosidase, and several causative mutations are known. In this study we report clinical and laboratory data in Iranian patients with late\u2010onset Pompe disease (LOPD), focusing on population\u2010specific mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical and laboratory data of 14 patients from 10 families with the diagnosis of LOPD were recorded. All had reduced enzyme activity on dried blood spot (DBS) analysis. Genetic investigation was performed to identify the underlying mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The age of onset ranged from &lt;2 to 38 years. The clinical presentations were heterogeneous. Two siblings presented with foot drop. The most common mutation was c.(\u201032\u201013T&gt;G). There were 4 novel mutations: c.(2040\u2009+\u20092dup); c.(1650delG); c.(1837T&gt;G); and c.(2596delG).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is a comprehensive report of LOPD in Iranian patients. Distinct phenotypic and genotypic features in this population are highlighted. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>55<\/jats:bold>: 835\u2013840, 2017<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25413","type":"journal-article","created":{"date-parts":[[2016,9,20]],"date-time":"2016-09-20T23:36:55Z","timestamp":1474414615000},"page":"835-840","source":"Crossref","is-referenced-by-count":8,"title":["Late\u2010onset pompe disease in Iran: A clinical and genetic report"],"prefix":"10.1002","volume":"55","author":[{"given":"Ferdos","family":"Nazari","sequence":"first","affiliation":[{"name":"Iranian Center of Neurological Research, Shariati Hospital Tehran University of Medical Sciences North Karegar Street Tehran 14114 Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farnaz","family":"Sinaei","sequence":"additional","affiliation":[{"name":"Iranian Center of Neurological Research, Shariati Hospital Tehran University of Medical Sciences North Karegar Street Tehran 14114 Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yalda","family":"Nilipour","sequence":"additional","affiliation":[{"name":"Pediatric Pathology Research Center, Mofid Children Hospital Shahid Beheshti Medical University Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farzad","family":"Fatehi","sequence":"additional","affiliation":[{"name":"Iranian Center of Neurological Research, Shariati Hospital Tehran University of Medical Sciences North Karegar Street Tehran 14114 Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berthold","family":"Streubel","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Feto\u2010Maternal Medicine Medical University of Vienna Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud Reza","family":"Ashrafi","sequence":"additional","affiliation":[{"name":"Children's Medical Center, School of Medicine Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omid","family":"Aryani","sequence":"additional","affiliation":[{"name":"Genetics Department Special Medical Center Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahriar","family":"Nafissi","sequence":"additional","affiliation":[{"name":"Iranian Center of Neurological Research, Shariati Hospital Tehran University of Medical Sciences North Karegar Street Tehran 14114 Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,3]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"82","article-title":"Clinical features of Pompe disease","volume":"32","author":"Manganelli F","year":"2013","journal-title":"Acta Myol"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-35"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.22329"},{"key":"e_1_2_7_5_1","unstructured":"Pompecenter.nl.http:\/\/cluster15.erasmusmc.nl\/klgn\/pompe\/mutations.html?lang=en\/. 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