{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T22:59:58Z","timestamp":1765666798700},"reference-count":11,"publisher":"Wiley","issue":"22","license":[{"start":{"date-parts":[[2008,10,15]],"date-time":"2008-10-15T00:00:00Z","timestamp":1224028800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on clinicopathological and whole body MRI analyses of the index patient of a large nonconsanguineous German\u2010Ukraine family with homozygous and heterozygous <jats:italic>AGL<\/jats:italic> gene mutations at position p.W1327X (c.3980G\u2009&gt;\u2009A). There are only limited reports on this phenotype with a homozygous genotype. The index patient, a 49\u2010year\u2010old woman presented with hepatomegaly, cardiomyopathy and moderate progressive proximal limb myopathy. Skeletal muscle showed severe vacuolar myopathy with storage of PAS\u2010positive non\u2010membrane\u2010limited glycogen. An increase in glycogen content and completely decrease of debranching enzyme activity was measured in erythrocytes. Mutational analysis of the <jats:italic>AGL<\/jats:italic> gene showed a homozygous p.W1327X mutation. In the family, two brothers had been affected by severe infantile onset hepatomegaly and died within their first years of life by fatal liver cirrhosis. Furthermore, another sister severely affected by hepatomegaly, cardiomyopathy and proximal skeletal myopathy died at age 33. Three younger heterozygous sisters and a brother noticed exercise\u2010induced myalgia and weakness since their teens. In sum, a homozygous p.W1327X mutation leads to a severe generalized glycogenosis types 3a and 3b within the same family. Even heterozygous p.W1327X mutation carriers may present with mild non\u2010progressive neuromuscular symptoms, such as exercise\u2010induced myalgia and fatigue. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32529","type":"journal-article","created":{"date-parts":[[2008,10,16]],"date-time":"2008-10-16T07:31:23Z","timestamp":1224142283000},"page":"2911-2915","source":"Crossref","is-referenced-by-count":12,"title":["Clinicopathological analysis of the homozygous p.W1327X <i>AGL<\/i> mutation in glycogen storage disease type 3"],"prefix":"10.1002","volume":"146A","author":[{"given":"Benedikt","family":"Schoser","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter","family":"Gl\u00e4ser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josef","family":"M\u00fcller\u2010H\u00f6cker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,10,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410050504"},{"key":"e_1_2_6_3_1","volume-title":"Muscle biopsy","author":"Dubowitz V","year":"2007"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-005-0291-3"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0045-x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.67.3.364"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.07.017"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10347"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9093"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2953"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605752"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2006.06.007"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32529","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32529","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T18:56:12Z","timestamp":1699988172000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32529"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10,27]]},"references-count":11,"journal-issue":{"issue":"22","published-print":{"date-parts":[[2008,11,15]]}},"alternative-id":["10.1002\/ajmg.a.32529"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32529","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,10,27]]}}}