{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T03:14:42Z","timestamp":1788405282468,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T00:00:00Z","timestamp":1784678400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T00:00:00Z","timestamp":1784678400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Glycogen storage disease Type XV (GSD\u2010XV; OMIM #613507) is an ultra\u2010rare autosomal recessive disorder caused by biallelic pathogenic variants in\n                    <jats:italic>GYG1<\/jats:italic>\n                    , typically presenting with late\u2010onset skeletal myopathy, while predominant cardiac involvement is exceptional. We report a 31\u2010year\u2010old man with chest pain, fatigue, and exertional dyspnea whose electrocardiogram demonstrated a spontaneous Type\u20101 Brugada pattern with complete right bundle branch block. Transthoracic echocardiography revealed nonobstructive left ventricular hypertrophy with preserved ejection fraction, whereas speckle\u2010tracking showed markedly reduced global longitudinal strain with a heterogeneous distribution and absence of apical sparing. Cardiac magnetic resonance demonstrated mid\u2010to\u2010apical hypertrophy and patchy nonischemic late gadolinium enhancement consistent with myocardial fibrosis. Clinical exome sequencing identified a homozygous pathogenic\n                    <jats:italic>GYG1<\/jats:italic>\n                    variant (NM_004130.4:c.304G&gt;C; p.(Asp102His)) supported by functional evidence and familial segregation consistent with autosomal recessive inheritance. No pathogenic variants were detected in genes classically associated with Brugada syndrome, supporting a substrate\u2010related Brugada phenocopy. Neurological examination, serum creatine kinase levels, and systemic evaluation were unremarkable. This case further expands the recognized cardiac phenotype associated with\n                    <jats:italic>GYG1<\/jats:italic>\n                    deficiency by illustrating the coexistence of metabolic hypertrophic cardiomyopathy, myocardial fibrosis, and a Brugada phenocopy pattern, while highlighting a potential link between structural remodeling and arrhythmogenic electrical manifestations.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70251","type":"journal-article","created":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T06:52:42Z","timestamp":1784789562000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Phenotypic Expansion of\n                    <i>GYG1<\/i>\n                    \u2010Related Disease Presenting as Hypertrophic Cardiomyopathy With Brugada Phenocopy"],"prefix":"10.1002","author":[{"given":"Nurcan","family":"Arat","sequence":"first","affiliation":[{"name":"Department of Cardiology Sisli Hamidiye Etfal Training and Research Hospital  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umran","family":"Cetincelik","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sisli Hamidiye Etfal Training and Research Hospital  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z\u00fcmr\u00fct Arslan","family":"G\u00fclten","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism Sisli Hamidiye Etfal Training and Research Hospital  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sevil Tokdemir","family":"Sisman","sequence":"additional","affiliation":[{"name":"Department of Radiology Sisli Hamidiye Etfal Training and Research Hospital  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,22]]},"reference":[{"key":"e_1_2_19_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cpcardiol.2024.102566"},{"key":"e_1_2_19_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.10.012"},{"key":"e_1_2_19_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2015.04.014"},{"key":"e_1_2_19_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1542\u2010474X.2012.00525.x"},{"key":"e_1_2_19_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24108632"},{"key":"e_1_2_19_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jelectrocard.2019.04.017"},{"key":"e_1_2_19_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.01.002"},{"key":"e_1_2_19_9_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v29.i25.3932"},{"key":"e_1_2_19_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.10.002"},{"key":"e_1_2_19_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010016\u20109978\u20101"},{"key":"e_1_2_19_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl\u20102014\u2010305538"},{"key":"e_1_2_19_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24284"},{"key":"e_1_2_19_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.024"},{"key":"e_1_2_19_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0900661"},{"key":"e_1_2_19_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41569\u2010025\u201001171\u2010w"},{"key":"e_1_2_19_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_19_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcmg.2014.04.001"},{"key":"e_1_2_19_19_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgz075"}],"container-title":["American 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