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Lysinuria, increased signal on cerebral T2\u2010weighted MRI imaging and the rumpshaker mutation (Ile186Thr) in his proteolipid protein gene, PLP, were found. When faced with these facts, the mother admitted that she was related to the family reported by Johnston and McKusick in 1962 and Kobayashi in 1994, in whom this mutation has been reported. This is the first report of an abnormal MRI scan in this family.<\/jats:p>","DOI":"10.1023\/a:1005328019832","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T21:48:34Z","timestamp":1040507314000},"page":"811-816","source":"Crossref","is-referenced-by-count":15,"title":["A male child with the rumpshaker mutation, X\u2010linked spastic paraplegia\/Pelizaeus\u2010Merzbacher disease and lysinuria"],"prefix":"10.1002","volume":"20","author":[{"given":"S.","family":"Naidu","sequence":"first","affiliation":[{"name":"Kennedy Krieger Institute  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.R.","family":"Dlouhy","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.T.","family":"Geraghty","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.E.","family":"Hodes","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  975 West Walnut Street, IB130 Indianapolis IN 46202\u20105251 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1997,11]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"461","article-title":"Genetic homogeneity of Pelizaeus\u2010Merzbacher disease: tight linkage to the proteolipid protein locus in 16 affected families","volume":"55","author":"Boespflug\u2010Tanguy O","year":"1994","journal-title":"Am J Hum 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