Short Communications Incorporating Mouse Genome Mammalian Genome 11, 69–71 (2000). © Springer-Verlag New York Inc. 2000 1,2 1,2 Jingsong Zhang, Robert P. Erickson Genetics Committee, University of Arizona, Tucson, Arizona 85724, USA Angel Charity for Children—Wings for Genetic Research, Steele Memorial Children’s Research Center, Department of Pediatrics, 1501 N. Campbell Avenue, P.O. Box 245073, Section of Medical and Molecular Genetics, University of Arizona College of Medicine, Tucson, Arizona 85724-5073, USA Received: 25 June 1999 / Accepted: 16 September 1999 Niemann-Pick disease type C (NPC) is a disorder of intracellular cholesterol trafficking with neurological and hepatic symptoms. It is an autosomal recessive disorder which presents, usually in child- hood, with coordination problems, dysarthria, and paralysis of up- ward gaze, although prolonged neonatal jaundice or unexplained hepatitis may have been noted earlier (Heidenreich and Erickson 1997). In the early 1980s, two independent reports (Miyawaki et al. 1982; Pentchev et al. 1980) described mouse mutations that caused a new cholesterol storage disease with neurological mani- festations. These mutations are now known to represent the murine equivalent of NPC. Pentchev and colleagues recognized the rela- tionship to Niemann-Pick disease (Pentchev et al. 1980; Morris et al. 1982) while Miyawaki and colleagues described the
Mammalian Genome – Springer Journals
Published: Feb 27, 2014
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