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Genetics"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>\n                    <jats:italic>Introduction<\/jats:italic>\n                    . The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this,\n                    <jats:italic>VCP<\/jats:italic>\n                    mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge.\n                    <jats:italic>Methods<\/jats:italic>\n                    . A 60-year-old man who played ice hockey into his 50\u2019s was evaluated by electrodiagnostics, muscle biopsy, and molecular genetics.\n                    <jats:italic>Results<\/jats:italic>\n                    . With long-standing pes cavus and toe walking, our patient developed progressive weakness, cramps, memory loss, and paresthesias at age 52. An axonal sensorimotor neuropathy was found upon repeated testing at age 58. Neuropathic histopathology was present in the quadriceps, and exome sequencing revealed the\n                    <jats:italic>VCP<\/jats:italic>\n                    mutation c.290 C&gt;T, p.Gly97Glu.\n                    <jats:italic>Conclusions<\/jats:italic>\n                    . Our patient reflects the clinical heterogeneity of VCP mutations, as his neurological localization is a spectrum between a lower motor neuron disorder and a hereditary axonal peripheral neuropathy such as CMT2. Our case demonstrates a rare manifestation of the c.290 C&gt;T, pGly97Glu\n                    <jats:italic>VCP<\/jats:italic>\n                    mutation.\n                  <\/jats:p>","DOI":"10.1155\/2015\/239167","type":"journal-article","created":{"date-parts":[[2015,3,23]],"date-time":"2015-03-23T17:07:15Z","timestamp":1427130435000},"page":"1-5","source":"Crossref","is-referenced-by-count":9,"title":["Rare Manifestation of a c.290 C&gt;T, p.Gly97Glu\n                    <i>VCP<\/i>\n                    Mutation"],"prefix":"10.1155","volume":"2015","author":[{"given":"Nivedita U.","family":"Jerath","sequence":"first","affiliation":[{"name":"Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cameron D.","family":"Crockett","sequence":"additional","affiliation":[{"name":"Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven A.","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"},{"name":"Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"Shy","sequence":"additional","affiliation":[{"name":"Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conrad C.","family":"Weihl","sequence":"additional","affiliation":[{"name":"Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsui-Fen","family":"Chou","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Harbor-UCLA Medical Centre, Los Angeles Biomedical Research Institute, Torrance, CA 90502, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiffany","family":"Grider","sequence":"additional","affiliation":[{"name":"Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Gonzalez","sequence":"additional","affiliation":[{"name":"Dr. John T. 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