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A de novo mutation was proven in one patient and suspected in the other. The p.Gly327Arg <jats:italic>GARS<\/jats:italic> variant did not support yeast growth in a complementation assay, showing that this variant severely impairs protein function. Thus, the p.Gly327Arg <jats:italic>GARS<\/jats:italic> mutation causes a distal motor neuropathy.<\/jats:p>","DOI":"10.1111\/jns.12353","type":"journal-article","created":{"date-parts":[[2019,10,19]],"date-time":"2019-10-19T10:54:20Z","timestamp":1571482460000},"page":"320-323","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["A recurrent <i>GARS<\/i> mutation causes distal hereditary motor neuropathy"],"prefix":"10.1111","volume":"24","author":[{"given":"Diana C.","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Neurology, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Meyer\u2010Schuman","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Michigan  Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chelsea","family":"Bacon","sequence":"additional","affiliation":[{"name":"Department of Neurology The University of Iowa  Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael E.","family":"Shy","sequence":"additional","affiliation":[{"name":"Department of Neurology The University of Iowa  Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Antonellis","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Michigan  Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3900-2367","authenticated-orcid":false,"given":"Steven S.","family":"Scherer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Perelman School of Medicine University of Pennsylvania  Philadelphia 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