{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T02:32:09Z","timestamp":1777516329572,"version":"3.51.4"},"reference-count":7,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p>Limb-girdle muscular dystrophy R9 (LGMD2I, LGMDR9) is an autosomal recessive disorder caused by pathogenic variants in the fukutin-related protein ( FKRP) gene. We describe a 17 year old boy with LGMDR9 whose symptoms began at age 5 years. Muscle histopathology, immunostaining, and western blotting were consistent with a dystroglycanopathy. Genetic testing identified maternal inheritance of the most common pathogenic FKRP variant c.826C&gt;A (p.L276I). Also detected was a novel insertion and duplication on the paternally inherited FKRP allele: a single nucleotide insertion (c.948_949insC) and an eighteen nucleotide duplication (c.999_1017dup18) predicted to result in premature translation termination (p.E389*). Based on the clinical features and course of the patient, heterozygosity for the common pathogenic FKRP variant, and abnormal glycosylation of alpha-dystroglycan, we suggest that the novel FKRP insertion and duplication are pathogenic. This case expands the genetic heterogeneity of LGMDR9 and emphasize the importance of muscle biopsy for precise diagnosis.<\/jats:p>","DOI":"10.1177\/2329048x221097518","type":"journal-article","created":{"date-parts":[[2022,4,29]],"date-time":"2022-04-29T00:58:50Z","timestamp":1651193930000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Limb-Girdle Muscular Dystrophy R9 due  to a Novel Complex Insertion\/Duplication Variant in\n                    <i>FKRP<\/i>\n                    Gene"],"prefix":"10.1177","volume":"9","author":[{"given":"Erin","family":"Willis","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Arkansas Children\u2019s Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven A.","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Iowa Carver College of Medicine and Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Iowa City, IA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary O.","family":"Cox","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Iowa Carver College of Medicine and Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Iowa City, IA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vikki","family":"Stefans","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Physical Medicine and Rehabilitation, Arkansas Children\u2019s Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akilandeswari","family":"Aravindhan","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Arkansas Children\u2019s Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murat","family":"Gokden","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3065-3956","authenticated-orcid":false,"given":"Aravindhan","family":"Veerapandiyan","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Arkansas Children\u2019s Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,4,28]]},"reference":[{"key":"bibr1-2329048X221097518","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-08-045031-5.00008-6"},{"key":"bibr2-2329048X221097518","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlaa120"},{"key":"bibr3-2329048X221097518","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10559"},{"key":"bibr4-2329048X221097518","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000157654.59374.E5"},{"key":"bibr5-2329048X221097518","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20824"},{"key":"bibr6-2329048X221097518","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwv021"},{"key":"bibr7-2329048X221097518","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000388"}],"container-title":["Child Neurology Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X221097518","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2329048X221097518","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X221097518","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:58:17Z","timestamp":1777391897000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2329048X221097518"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":7,"alternative-id":["10.1177\/2329048X221097518"],"URL":"https:\/\/doi.org\/10.1177\/2329048x221097518","relation":{},"ISSN":["2329-048X","2329-048X"],"issn-type":[{"value":"2329-048X","type":"print"},{"value":"2329-048X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1]]},"article-number":"2329048X221097518"}}