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This report expands the severity of the phenotypic spectrum of autosomal dominant <jats:italic>OPA3<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1101\/mcs.a001156","type":"journal-article","created":{"date-parts":[[2016,12,15]],"date-time":"2016-12-15T10:21:31Z","timestamp":1481797291000},"page":"a001156","source":"Crossref","is-referenced-by-count":12,"title":["Optic atrophy, cataracts, lipodystrophy\/lipoatrophy, and peripheral neuropathy caused by a de novo <i>OPA3<\/i> mutation"],"prefix":"10.1101","volume":"3","author":[{"given":"Stephanie C.","family":"Bourne","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katelin N.","family":"Townsend","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Casper","family":"Shyr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allison","family":"Matthews","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott A.","family":"Lear","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raj","family":"Attariwala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Lehman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wyeth W.","family":"Wasserman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clara","family":"van Karnebeek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graham","family":"Sinclair","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilary","family":"Vallance","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William T.","family":"Gibson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2016,10,28]]},"reference":[{"key":"2021112506113230000_3.1.a001156.1","doi-asserted-by":"publisher","DOI":"10.1086\/324651"},{"key":"2021112506113230000_3.1.a001156.2","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1159\/000339310","article-title":"OPA3-related autosomal dominant optic atrophy and cataract with ataxia and areflexia","volume":"68","year":"2012","journal-title":"Eur Neurol"},{"key":"2021112506113230000_3.1.a001156.3","doi-asserted-by":"crossref","unstructured":"Choi Y . 2012. 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