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We also provide evidence of neuromuscular dysfunction as part of the phenotype by showing abnormalities on muscle ultrasound in four gene carriers.<\/jats:p>","DOI":"10.1136\/jmg.35.2.94","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"94-98","source":"Crossref","is-referenced-by-count":36,"title":["\"Cataplexy\" and muscle ultrasound abnormalities in Coffin-Lowry syndrome."],"prefix":"10.1136","volume":"35","author":[{"given":"Y J","family":"Crow","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S M","family":"Zuberi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"McWilliam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J L","family":"Tolmie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Hollman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Pohl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J B","family":"Stephenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,2,1]]},"reference":[{"key":"ref_1","first-page":"205","article-title":"Mental retardation with osteocartilaginous anomalies","volume":"112","author":"Coffin, G.S.; Siris, E.; Wegienka, L.C.","year":"1966","unstructured":"Coffin GS, Siris E, Wegienka LC. 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