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However, for some patients diagnosed with NEM, definitive mutations are not identified in the known genes, suggesting that there are other genes involved. This study describes compound heterozygosity for rare variants in ryanodine receptor type 3 (<jats:italic><jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>3<\/jats:italic>) gene in one such patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>Clinical examination of the patient at 22 years of age revealed a long narrow face, high arched palate and bilateral facial weakness. She had proximal weakness in all four limbs, mild scapular winging but no scoliosis. Muscle biopsy revealed wide variation in fibre size with type 1 fibre predominance and atrophy. Abundant nemaline bodies were located in perinuclear and subsarcolemmal areas, and within the cytoplasm. No likely pathogenic mutations in known NEM genes were identified. Copy number variation in known NEM genes was excluded by NEM\u2010targeted comparative genomic hybridization array. Next\u2010generation sequencing revealed compound heterozygous missense variants in the <jats:italic><jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>3<\/jats:italic> gene. <jats:italic><jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>3<\/jats:italic> transcripts are expressed in human fetal and adult skeletal muscle as well as in human brain and cauda equina samples. Immunofluorescence of human skeletal muscle revealed a \u2018single\u2010row\u2019 appearance of <jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>3, interspersed between the \u2018double rows\u2019 of ryanodine receptor type 1 (<jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>1) at each A\u2013I junction.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The results suggest that variants in <jats:italic><jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>3<\/jats:italic> may cause a recessive muscle disease with pathological features including nemaline bodies. We characterize the expression pattern of <jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>3 in human skeletal muscle and brain, and the subcellular localization of <jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>1 and <jats:styled-content style=\"fixed-case\">RYR<\/jats:styled-content>3 in human skeletal muscle.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13607","type":"journal-article","created":{"date-parts":[[2018,3,2]],"date-time":"2018-03-02T13:02:47Z","timestamp":1519995767000},"page":"841-847","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["Ryanodine receptor type 3 (<i><scp>RYR<\/scp>3<\/i>) as a novel gene associated with a myopathy with nemaline bodies"],"prefix":"10.1111","volume":"25","author":[{"given":"Y.","family":"Nilipour","sequence":"first","affiliation":[{"name":"Pediatric Pathology Research Centre Mofid Children's Hospital Shahid Beheshti University of Medical Sciences Tehran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Nafissi","sequence":"additional","affiliation":[{"name":"Department of Neurology Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. E.","family":"Tjust","sequence":"additional","affiliation":[{"name":"Department of Integrative Medical Biology Ume\u00e5 University Ume\u00e5"},{"name":"Department of Clinical Sciences Ume\u00e5 University Ume\u00e5 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Ravenscroft","sequence":"additional","affiliation":[{"name":"Centre for Medical Research University of Western Australia and Harry Perkins Institute for Medical Research Nedlands WA Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Hossein Nejad Nedai","sequence":"additional","affiliation":[{"name":"Department of Pathology Shahid Beheshti University of Medical Sciences Tehran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. 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