{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T09:05:03Z","timestamp":1788599103300,"version":"build-2803163510"},"reference-count":27,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100004320","name":"Shiraz University of Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004320","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2022,8]]},"DOI":"10.1016\/j.ejmg.2022.104552","type":"journal-article","created":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T12:18:46Z","timestamp":1655900326000},"page":"104552","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review"],"prefix":"10.1016","volume":"65","author":[{"given":"Elham","family":"Ehsani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein Jafari","family":"Khamirani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Abbasi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammadreza","family":"Gohari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sina","family":"Zoghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanaz","family":"Mohammadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehdi","family":"Dianatpour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyed Mohammad Bagher","family":"Tabei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omid","family":"Mohamadjani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyed Alireza","family":"Dastgheib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2022.104552_bib1","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2020.104031","article-title":"A novel homozygous KY variant causing a complex neurological disorder","volume":"63","author":"Arif","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2022.104552_bib2","doi-asserted-by":"crossref","first-page":"W344","DOI":"10.1093\/nar\/gkw408","article-title":"ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules","volume":"44","author":"Ashkenazy","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2022.104552_bib3","doi-asserted-by":"crossref","first-page":"1856","DOI":"10.1016\/j.yexcr.2010.02.027","article-title":"Identification of a Z-band associated protein complex involving KY, FLNC and IGFN1","volume":"316","author":"Baker","year":"2010","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.ejmg.2022.104552_bib4","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1093\/hmg\/10.1.9","article-title":"The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein","volume":"10","author":"Blanco","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2022.104552_bib5","doi-asserted-by":"crossref","first-page":"D344","DOI":"10.1093\/nar\/gkaa977","article-title":"The InterPro protein families and domains database: 20 years on","volume":"49","author":"Blum","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2022.104552_bib6","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1002\/mus.880150208","article-title":"The neuromuscular basis of hereditary kyphoscoliosis in the mouse","volume":"15","author":"Bridges","year":"1992","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ejmg.2022.104552_bib7","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1007\/s12311-016-0803-z","article-title":"Hereditary spastic paraplegia: clinical and genetic hallmarks","volume":"16","author":"de Souza","year":"2017","journal-title":"Cerebellum"},{"key":"10.1016\/j.ejmg.2022.104552_bib8","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.gendis.2018.09.004","article-title":"Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy","volume":"5","author":"Ebrahimzadeh-Vesal","year":"2018","journal-title":"Genes Dis."},{"key":"10.1016\/j.ejmg.2022.104552_bib9","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s13353-018-0463-4","article-title":"Myofibrillar myopathy in the genomic context","volume":"59","author":"Fichna","year":"2018","journal-title":"J. Appl. Genet."},{"key":"10.1016\/j.ejmg.2022.104552_bib10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2012.03.025","article-title":"Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance","volume":"318","author":"Finsterer","year":"2012","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.ejmg.2022.104552_bib11","series-title":"The CARE Guidelines: Consensus\u2010based Clinical Case Reporting Guideline Development","author":"Gagnier","year":"2013"},{"key":"10.1016\/j.ejmg.2022.104552_bib12","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1038\/ejhg.2016.98","article-title":"A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency","volume":"24","author":"Hedberg-Oldfors","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2022.104552_bib13","series-title":"Hereditary Spastic Paraplegia Overview. GeneReviews\u00ae","author":"Hedera","year":"2021"},{"key":"10.1016\/j.ejmg.2022.104552_bib14","doi-asserted-by":"crossref","first-page":"D884","DOI":"10.1093\/nar\/gkaa942","article-title":"Ensembl 2021","volume":"49","author":"Howe","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2022.104552_bib15","doi-asserted-by":"crossref","DOI":"10.1159\/000522353","article-title":"Clinical features of okur-chung neurodevelopmental syndrome: case report and literature review","author":"Jafari Khamirani","year":"2022","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.ejmg.2022.104552_bib16","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly accurate protein structure prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2022.104552_bib17","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s12041-021-01315-0","article-title":"Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS","volume":"100","author":"Khamirani","year":"2021","journal-title":"J. Genet."},{"key":"10.1016\/j.ejmg.2022.104552_bib18","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.neurol.2015.02.017","article-title":"Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting","volume":"171","author":"Klebe","year":"2015","journal-title":"Rev. Neurol. (Paris)"},{"key":"10.1016\/j.ejmg.2022.104552_bib19","article-title":"The sarcomeric Z-disc and Z-discopathies","author":"Kn\u00f6ll","year":"2011","journal-title":"J. Biomed. Biotechnol. 2011"},{"key":"10.1016\/j.ejmg.2022.104552_bib20","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows\u2013Wheeler transform","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ejmg.2022.104552_bib21","doi-asserted-by":"crossref","first-page":"D733","DOI":"10.1093\/nar\/gkv1189","article-title":"Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation","volume":"44","author":"O'Leary","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2022.104552_bib22","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/978-1-59745-528-2_2","article-title":"OLIGO 7 primer analysis software","volume":"402","author":"Rychlik","year":"2007","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ejmg.2022.104552_bib23","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/B978-0-08-045031-5.00011-6","article-title":"Myofibrillar myopathies","volume":"101","author":"Selcen","year":"2011","journal-title":"Handb. Clin. Neurol."},{"key":"10.1016\/j.ejmg.2022.104552_bib24","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/0888-7543(95)80127-8","article-title":"Genetic mapping of the mouse neuromuscular mutation kyphoscoliosis","volume":"25","author":"Skynner","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/j.ejmg.2022.104552_bib25","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1007\/s00401-016-1602-9","article-title":"Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects","volume":"132","author":"Straussberg","year":"2016","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ejmg.2022.104552_bib26","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2022.104552_bib27","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1038\/ejhg.2017.85","article-title":"Progressive hereditary spastic paraplegia caused by a homozygous KY mutation","volume":"25","author":"Yogev","year":"2017","journal-title":"Eur. J. Hum. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222001331?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222001331?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:52:51Z","timestamp":1761709971000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721222001331"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8]]},"references-count":27,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["S1769721222001331"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104552","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2022,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104552","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104552"}}