{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T07:04:19Z","timestamp":1771916659229,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,6,23]],"date-time":"2024-06-23T00:00:00Z","timestamp":1719100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:p>Glycogen storage diseases (GSDs) are a group of metabolic disorders affecting glycogen metabolism, with polyglucosan body myopathy type 1 (PGBM1) being a rare variant linked to <jats:italic>RBCK1<\/jats:italic> gene mutations. Understanding the clinical diversity of PGBM1 aids in better characterization of the disease. Two unrelated Iranian families with individuals exhibiting progressive muscle weakness underwent clinical evaluations, genetic analysis using whole exome sequencing (WES), and histopathological examinations of muscle biopsies. In one case, a novel homozygous <jats:italic>RBCK1<\/jats:italic> variant was identified, presenting with isolated myopathy without cardiac or immune involvement. Conversely, the second case harbored a known homozygous <jats:italic>RBCK1<\/jats:italic> variant, displaying a broader phenotype encompassing myopathy, cardiomyopathy, inflammation, and immunodeficiency. Histopathological analyses confirmed characteristic skeletal muscle abnormalities consistent with PGBM1. Our study contributes to the expanding understanding of <jats:italic>RBCK1<\/jats:italic>\u2010related diseases, illustrating the spectrum of phenotypic variability associated with distinct <jats:italic>RBCK1<\/jats:italic> variants. These findings underscore the importance of genotype\u2013phenotype correlations in elucidating disease mechanisms and guiding clinical management. Furthermore, the utility of next\u2010generation sequencing techniques in diagnosing complex neurogenetic disorders is emphasized, facilitating precise diagnosis and enabling tailored genetic counseling for affected individuals and their families.<\/jats:p>","DOI":"10.1111\/neup.12993","type":"journal-article","created":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T00:30:02Z","timestamp":1719189002000},"page":"48-54","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Phenotypic and genotyping spectrum of two Iranian cases with <scp><i>RBCK1<\/i><\/scp>\u2010associated polyglucosan body myopathy"],"prefix":"10.1111","volume":"45","author":[{"given":"Marzieh","family":"Babaee","sequence":"first","affiliation":[{"name":"Physical Medicine, and Rehabilitation Mofid Children's Hospital  Tehran Iran"},{"name":"Physical Medicine and Rehabilitation Research Center SBMU  Tehran 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