{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T23:01:42Z","timestamp":1780009302323,"version":"3.53.1"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T00:00:00Z","timestamp":1780012800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    Pathogenic biallelic variants in\n                    <jats:italic>GYG1<\/jats:italic>\n                    , encoding for glycogenin-1, are associated with polyglucosan bodies myopathy characterized by muscle accumulation of deposits of amylopectin-like polysaccharides (MIM 616199). So far, only few cases (&amp;lt;50) with molecular defects in\n                    <jats:italic>GYG1<\/jats:italic>\n                    have been reported. The proband is a 79-year-old Italian woman presenting with subacute onset of diffuse soreness, weakness in the upper limbs and diffuse muscle atrophy without cardiac or respiratory involvement. Electromyography showed myopathic features. Muscle biopsy revealed several type I muscle fibers containing intensely PAS-positive, diastase-resistant vacuoles of variable dimension. Ultrastructural analysis showed vacuoles with granular-fibrillar storage material localized in subsarcolemmal and intermyofibrillar areas, small amounts of free glycogen and jagged Z-line appearance of some sarcomeres. Clinical exome sequencing revealed two heterozygous pathogenic variants in\n                    <jats:italic>GYG1<\/jats:italic>\n                    . Our findings provide clinical and molecular characterization of a novel case of\n                    <jats:italic>GYG1<\/jats:italic>\n                    \u2010related polyglucosan bodies myopathy and highlight the histological clues leading to the diagnosis of this rare clinical phenotype.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2026.1777448","type":"journal-article","created":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T22:10:16Z","timestamp":1780006216000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Glycogenin-1 deficiency: a case report and review of the literature"],"prefix":"10.3389","volume":"17","author":[{"given":"Nicola","family":"Molitierno","sequence":"first","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan","place":["Milan, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Velardo","sequence":"additional","affiliation":[{"name":"Neuromuscular and Rare Disease Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico","place":["Milan, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Salvucci","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan","place":["Milan, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Abati","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan","place":["Milan, Italy"]},{"name":"Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico","place":["Milan, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Tumminello","sequence":"additional","affiliation":[{"name":"Department of Cardio-Thoracic-Vascular Diseases, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico","place":["Milan, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Ripolone","sequence":"additional","affiliation":[{"name":"Neuromuscular and Rare Disease Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico","place":["Milan, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Zanotti","sequence":"additional","affiliation":[{"name":"Neuromuscular and Rare Disease Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico","place":["Milan, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Napoli","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan","place":["Milan, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Ciscato","sequence":"additional","affiliation":[{"name":"Neuromuscular and Rare Disease Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico","place":["Milan, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Sciacco","sequence":"additional","affiliation":[{"name":"Neuromuscular and Rare Disease Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico","place":["Milan, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo Pietro","family":"Comi","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan","place":["Milan, Italy"]},{"name":"Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico","place":["Milan, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Corti","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan","place":["Milan, Italy"]},{"name":"Neuromuscular and Rare Disease Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico","place":["Milan, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Ronchi","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan","place":["Milan, Italy"]},{"name":"Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico","place":["Milan, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,5,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1016\/j.nmd.2015.10.012","article-title":"Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1","volume":"26","author":"Akman","year":"2016","journal-title":"Neuromuscul. 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