{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T10:41:23Z","timestamp":1792665683021,"version":"4.5.0"},"reference-count":21,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T00:00:00Z","timestamp":1792627200000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"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":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Dystroglycanopathies are a clinically and genetically heterogeneous group of muscular dystrophies caused by impaired glycosylation of\n                      <jats:italic>\u03b1<\/jats:italic>\n                      \u2010dystroglycan, with variants in multiple genes, including\n                      <jats:italic>CRPPA<\/jats:italic>\n                      , which is associated with a broad spectrum ranging from congenital muscular dystrophy to limb\u2010girdle muscular dystrophy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>The proband underwent whole exome sequencing, while Sanger sequencing was used for segregation analysis and oligonucleotide array\u2010CGH was performed to confirm the copy number variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We report two siblings harboring an identical novel compound heterozygous\n                      <jats:italic>CRPPA<\/jats:italic>\n                      genotype, comprising a novel c.267G&gt;C missense variant and a deletion encompassing exons 9\u201310. Despite sharing the same genotype, the siblings showed marked phenotypic variability. The female sibling developed childhood\u2010onset disease with proximal weakness involving both the upper and lower limbs, whereas the male sibling presented with late\u2010onset disease and weakness confined to the proximal lower limbs, accompanied by markedly discordant serum creatine kinase levels (1193 vs. 460\u2009U\/L).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These findings expand the mutational and clinical spectrum of CRPPA\u2010related dystroglycanopathy, highlight marked intrafamilial phenotypic variability, and emphasize the importance of integrated single\u2010nucleotide and copy number variant analysis in the genetic diagnosis of neuromuscular disorders.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70312","type":"journal-article","created":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T10:13:46Z","timestamp":1792664026000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Variable Phenotypic Manifestations of Novel Compound Heterozygous\n                    <scp>CRPPA<\/scp>\n                    Variants in Two Iranian Siblings With Limb\u2010Girdle Muscular Dystrophy"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-0574-6535","authenticated-orcid":false,"given":"Parnian","family":"Alagha","sequence":"first","affiliation":[{"name":"Kariminejad \u2010 Najmabadi Pathology &amp; Genetics Center  Tehran Iran"},{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Ahangari","sequence":"additional","affiliation":[{"name":"Kariminejad \u2010 Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8467-4728","authenticated-orcid":false,"given":"Ariana","family":"Kariminejad","sequence":"additional","affiliation":[{"name":"Kariminejad \u2010 Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6386-7961","authenticated-orcid":false,"given":"Aida","family":"Ghasemi","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soheila","family":"Gholami","sequence":"additional","affiliation":[{"name":"Kariminejad \u2010 Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neda","family":"Sadatian","sequence":"additional","affiliation":[{"name":"Kariminejad \u2010 Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1943-2391","authenticated-orcid":false,"given":"Roxana","family":"Kariminejad","sequence":"additional","affiliation":[{"name":"Kariminejad \u2010 Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6587-7706","authenticated-orcid":false,"given":"Kimia","family":"Kahrizi","sequence":"additional","affiliation":[{"name":"Kariminejad \u2010 Najmabadi Pathology &amp; Genetics Center  Tehran Iran"},{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9286-4943","authenticated-orcid":false,"given":"Ali Asghar","family":"Okhovat","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6084-7778","authenticated-orcid":false,"given":"Hossein","family":"Najmabadi","sequence":"additional","affiliation":[{"name":"Kariminejad \u2010 Najmabadi Pathology &amp; 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