{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T18:17:23Z","timestamp":1790187443118,"version":"4.1.0"},"reference-count":45,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,10,4]],"date-time":"2012-10-04T00:00:00Z","timestamp":1349308800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:p>Valosin containing protein  (<jats:styled-content style=\"fixed-case\">VCP)<\/jats:styled-content> disease associated with inclusion body myopathy, Paget disease of the bone and frontotemporal dementia is a progressive autosomal dominant disorder caused by mutations in Valosin containing protein gene. To establish genotype\u2013phenotype correlations we analyzed clinical and biochemical markers from a database of 190 members in 27 families harboring 10 missense mutations. Individuals were grouped into three categories: symptomatic, presymptomatic carriers and noncarriers. The symptomatic families were further divided into ten groups based on their <jats:styled-content style=\"fixed-case\">VCP<\/jats:styled-content> mutations. There was marked intra and inter\u2010familial variation; and significant genotype\u2013phenotype correlations were difficult to establish because of small numbers. Nevertheless when comparing the two most common mutations, <jats:styled-content style=\"fixed-case\">R155C<\/jats:styled-content> mutation was found to be more severe, with an earlier onset of myopathy and Paget  (p\u2009=\u20090.03). Survival analysis of all subjects revealed an average life span after diagnosis of myopathy and Paget of 18 and 19\u2009years respectively, and after dementia only 6\u2009years. <jats:styled-content style=\"fixed-case\">R155C<\/jats:styled-content> had a reduced survival compared to the <jats:styled-content style=\"fixed-case\">R155H<\/jats:styled-content> mutation  (p\u2009=\u20090.03).We identified amyotrophic lateral sclerosis  (<jats:styled-content style=\"fixed-case\">ALS<\/jats:styled-content>) was diagnosed in 13 individuals  (8.9%) and Parkinson's disease in five individuals  (3%); however, there was no genotypic correlation. This study represents the largest dataset of patients with <jats:styled-content style=\"fixed-case\">VCP<\/jats:styled-content> disease and expands our understanding of the natural history and provides genotype\u2013phenotype correlations in this unique disease.<\/jats:p>","DOI":"10.1111\/cge.12000","type":"journal-article","created":{"date-parts":[[2012,8,21]],"date-time":"2012-08-21T13:35:23Z","timestamp":1345556123000},"page":"422-431","source":"Crossref","is-referenced-by-count":105,"title":["Genotype\u2013phenotype studies of <scp>VCP<\/scp>\u2010associated inclusion body myopathy with Paget disease of bone and\/or frontotemporal dementia"],"prefix":"10.1111","volume":"83","author":[{"given":"SG","family":"Mehta","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of California  Irvine CA USA"},{"name":"East Anglian Regional Genetics Service Addenbrookes Hospital  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Khare","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of California  Irvine CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Ramani","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of California  Irvine CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GDJ","family":"Watts","sequence":"additional","affiliation":[{"name":"Biomedical Research Center University of East Anglia  Norwich Norfolk UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Simon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KE","family":"Osann","sequence":"additional","affiliation":[{"name":"Division of Hematology\/Oncology, Department of Medicine University of California  Irvine CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Donkervoort","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of California  Irvine CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Dec","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of California  Irvine CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Nalbandian","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of California  Irvine CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Platt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Pasquali","sequence":"additional","affiliation":[{"name":"Department of Pathology, School of Medicine University of Utah  Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Wang","sequence":"additional","affiliation":[{"name":"ALS and Neuromuscular Center University of California  Irvine CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Mozaffar","sequence":"additional","affiliation":[{"name":"ALS and Neuromuscular Center University of California  Irvine CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CD","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Neurology and Sanders\u2010Brown Center on Aging University of Kentucky  Lexington KY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"VE","family":"Kimonis","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of California  Irvine CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,10,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200007000-00006"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(03)00070-1"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3256"},{"key":"e_1_2_6_5_1","unstructured":"KimonisV DonkervoortS WattsG. 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