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While small\u2010animal models for the disease have been developed and described, the condition has not been documented in non\u2010human primates.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Three spontaneous cases of severe lissencephaly, microphthalmia, and congenital muscular contracture in infant rhesus macaques were investigated. Histological analysis was performed on brain, retina, and skeletal muscle tissue. Genomic sequencing and RT\u2010PCR were used to identify and validate the causative pathogenic variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The genetic basis for disease was determined to be the result of a rare single nucleotide variant altering a canonical splice site in the\n                      <jats:italic>POMT1<\/jats:italic>\n                      gene. Aberrant splicing was confirmed in affected monkeys and H&amp;E staining demonstrated histological markers consistent with severe \u03b1\u2010dystroglycanopathy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Recapitulation of this clinical disease phenotype in a non\u2010human primate establishes the utility of rhesus macaques as a model for dystroglycanopathies, such as Walker\u2013Warburg syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ame2.70277","type":"journal-article","created":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T06:55:16Z","timestamp":1787640916000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A rhesus macaque model of \u03b1\u2010dystroglycanopathy caused by a\n                    <scp>\n                      <i>POMT1<\/i>\n                    <\/scp>\n                    splice altering variant"],"prefix":"10.1002","author":[{"given":"Anya","family":"Nordlund","sequence":"first","affiliation":[{"name":"Division of Comparative Medicine, Oregon National Primate Research Center Oregon Health &amp; Science University  Beaverton Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"LaMendola","sequence":"additional","affiliation":[{"name":"Division of Comparative Medicine, Oregon National Primate Research Center Oregon Health &amp; Science University  Beaverton Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan P.","family":"Crilly","sequence":"additional","affiliation":[{"name":"Division of Comparative Medicine, Oregon National Primate Research Center Oregon Health &amp; Science University  Beaverton Oregon 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