{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:35:58Z","timestamp":1787495758016,"version":"build-2736575974"},"reference-count":38,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T00:00:00Z","timestamp":1701043200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4\u2010alpha\u2010glucan branching enzyme) deficiency secondary to pathogenic variants on\n                    <jats:italic>GBE1<\/jats:italic>\n                    gene. The incidence is evaluated to 1:600\u2009000 to 1:800\u2009000 of live births. GBE deficiency leads to an excessive deposition of structurally abnormal, amylopectin\u2010like glycogen in affected tissues (liver, skeletal muscle, heart, nervous system, etc.). Diagnosis is often guided by histological findings and confirmed by GBE activity deficiency and molecular studies. Severe neuromuscular forms of GSD IV are very rare and of disastrous prognosis. Identification and characterization of these forms are important for genetic counseling for further pregnancies. Here we describe clinical, histological, enzymatic, and molecular findings of 10 cases from 8 families, the largest case series reported so far, of severe neuromuscular forms of GSD IV along with a literature review. Main antenatal features are: fetal akinesia deformation sequence or arthrogryposis\/joint contractures often associated with muscle atrophy, decreased fetal movement, cystic hygroma, and\/or hydrops fetalis. If pregnancy is carried to term, the main clinical features observed at birth are severe hypotonia and\/or muscle atrophy, with the need for mechanical ventilation, cardiomyopathy, retrognathism, and arthrogryposis. All our patients were stillborn or died within 1 month of life. In addition, we identified five novel\n                    <jats:italic>GBE1<\/jats:italic>\n                    variants.\n                  <\/jats:p>","DOI":"10.1002\/jimd.12692","type":"journal-article","created":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T23:40:34Z","timestamp":1701128434000},"page":"255-269","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Severe neuromuscular forms of glycogen storage disease type\n                    <scp>IV<\/scp>\n                    : Histological, clinical, biochemical, and molecular findings in a large French case series"],"prefix":"10.1002","volume":"47","author":[{"given":"Charles R.","family":"Lef\u00e8vre","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Hospices Civils de Lyon  Bron France"},{"name":"Department of Biochemistry and Toxicology University Hospital  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Collardeau\u2010Frachon","sequence":"additional","affiliation":[{"name":"Department of Pathology, Hospices Civils de Lyon and Soffoet (Soci\u00e9t\u00e9 Fran\u00e7aise de F\u0153topathologie)  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Streichenberger","sequence":"additional","affiliation":[{"name":"Department of Pathology Hospices Civils de Lyon \u2013 Universit\u00e9 Claude Bernard Lyon1 \u2013 Institut NeuroMyog\u00e8ne CNRS UMR 5261 \u2013 INSERM U1315  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Berenguer\u2010Martin","sequence":"additional","affiliation":[{"name":"Department of Pathology University Hospital  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alix","family":"Cl\u00e9menson","sequence":"additional","affiliation":[{"name":"Department of Pathology University Hospital  Saint\u2010Etienne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Massardier","sequence":"additional","affiliation":[{"name":"Multidisciplinary Center for Prenatal Diagnosis, Department of Obstetrics and Gynecology, Hospices Civils de Lyon Femme Mere Enfant University Hospital  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Prieur","sequence":"additional","affiliation":[{"name":"Department of Clinical, Chromosomal and Molecular Genetics University Hospital  Saint\u2010Etienne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Laurichesse","sequence":"additional","affiliation":[{"name":"Department of Gynecology University Hospital  Clermont\u2010Ferrand France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Laffargue","sequence":"additional","affiliation":[{"name":"Department of Genetics University Hospital  Clermont\u2010Ferrand France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Acquaviva\u2010Bourdain","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Hospices Civils de Lyon  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Hospices Civils de Lyon  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magali","family":"Pettazzoni","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Hospices Civils de Lyon  Bron 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