{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T12:46:16Z","timestamp":1782305176381,"version":"3.54.5"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T00:00:00Z","timestamp":1781222400000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Variegate porphyria is a rare heme biosynthesis disorder caused by pathogenic variants in the\n                      <jats:italic>PPOX<\/jats:italic>\n                      gene. Despite being relatively well characterized, its clinical manifestations are highly variable and can mimic a broad spectrum of neurological and systemic conditions.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>We report the case of a young woman with recurrent episodes of muscle weakness, sometimes accompanied by respiratory dysfunction. Initially suspected to have myasthenia gravis, laboratory testing for this condition was negative. Whole\u2010genome sequencing identified a heterozygous pathogenic variant c.338G&gt;C in the PPOX gene and a homozygous variant of uncertain significance c.190G&gt;A in MYMK, with no other disease\u2010causing variants detected in genes associated with congenital myasthenic syndromes or periodic paralysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>In the described case, the patient's atypical clinical manifestations led to a prolonged and complex diagnostic workup. WGS findings suggested possible co\u2010occurrence of variegate porphyria with a potential overlap with a Carey\u2013Fineman\u2013Ziter syndrome. This case highlights the importance of comprehensive evaluation of the clinical presentation in patients with unexplained neuromuscular symptoms.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70243","type":"journal-article","created":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T07:06:43Z","timestamp":1781248003000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Clinical Presentation of Variegate Porphyria"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8827-4756","authenticated-orcid":false,"given":"I.","family":"Viakhireva","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7023-7378","authenticated-orcid":false,"given":"A.","family":"Murtazina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8831-1844","authenticated-orcid":false,"given":"A.","family":"Orlova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0412-7140","authenticated-orcid":false,"given":"N.","family":"Makretskaya","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3292-2758","authenticated-orcid":false,"given":"S.","family":"Nikitin","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7293-3438","authenticated-orcid":false,"given":"M.","family":"Skoblov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,12]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.22037\/aaem.v10i1.1780"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2023.09.008"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010015\u20107896\u2010z"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1608634"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2020.10.033"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms16077"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010med\u2010042921\u2010123602"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20686"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03402215"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62034"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/hematology.2020000124"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.10.008"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/283690"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102796.2000.00618.x"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2019.04.050"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/302586"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1177\/0004563216667965"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70243","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.70243","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70243","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T11:46:56Z","timestamp":1782301616000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70243"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1002\/mgg3.70243"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70243","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6]]},"assertion":[{"value":"2025-09-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70243"}}