{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T02:54:01Z","timestamp":1790132041403,"version":"4.0.1"},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,9,8]],"date-time":"2017-09-08T00:00:00Z","timestamp":1504828800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["098439\/Z\/12\/Z"],"award-info":[{"award-number":["098439\/Z\/12\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>SPG45 is a rare form of autosomal recessive spastic paraplegia associated with mental retardation. Detailed phenotyping and mutation analysis was undertaken in three individuals with SPG45 from a consanguineous family of Arab Muslim origin. Using whole\u2010exome sequencing, we identified a novel homozygous missense mutation in <jats:italic>NT5C2<\/jats:italic> (c.1379T&gt;C; p.Leu460Pro). Our data expand the molecular basis of SPG45, adding the first missense mutation to the current database of nonsense, frameshift, and splice site mutations. <jats:italic>NT5C2<\/jats:italic> mutations seem to have a broad clinical spectrum and should be sought in patients manifesting either as uncomplicated or complicated HSP.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38414","type":"journal-article","created":{"date-parts":[[2017,9,8]],"date-time":"2017-09-08T10:55:40Z","timestamp":1504868140000},"page":"3109-3113","source":"Crossref","is-referenced-by-count":16,"title":["Novel homozygous missense mutation in <i>NT5C2<\/i> underlying hereditary spastic paraplegia SPG45"],"prefix":"10.1002","volume":"173","author":[{"given":"Rachel","family":"Straussberg","sequence":"first","affiliation":[{"name":"Neurogenetic Clinic, Neurology Institute Schneider Children's Medical Center Petah Tikva Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv 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