{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T19:56:42Z","timestamp":1793908602414,"version":"4.8.0"},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,10,31]],"date-time":"2011-10-31T00:00:00Z","timestamp":1320019200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:p><jats:bold>Background and purpose:\u2002<\/jats:bold> Mutations in the valosin\u2010containing protein (<jats:italic>VCP<\/jats:italic>) gene are known to cause inclusion body myopathy with Paget\u2019s disease of bone and frontotemporal dementia (IBMPFD) and familial amyotrophic lateral sclerosis (ALS). Despite an increasing number of clinical reports, only one Asian family with IBMPFD has been described.<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> To characterize patients with <jats:italic>VCP<\/jats:italic> mutations, we screened a total of 152 unrelated Asian families who were suspected to have rimmed vacuolar myopathy.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> We identified <jats:italic>VCP<\/jats:italic> mutations in seven patients from six unrelated Asian families. Five different missense mutations were found, including a novel p.Ala439Pro substitution. All patients had adult\u2010onset progressive muscle wasting with variable involvement of axial, proximal, and distal muscles. Two of seven patients were suggested to have mild brain involvement including cerebellar ataxia, and only one showed radiological findings indicating a change in bone. Findings from skeletal muscle indicated mixed neurogenic and myogenic changes, fibers with rimmed vacuoles, and the presence of cytoplasmic and nuclear inclusions. These inclusions were immunopositive for VCP, ubiquitin, transactivation response DNA\u2010binding protein 43, and also histone deacetylase 6 (HDAC6), of which function is regulated by VCP. Evidence of early nuclear and mitochondrial damage was also characteristic.<\/jats:p><jats:p><jats:bold>Conclusions:\u2002<\/jats:bold> Valosin\u2010containing protein mutations are not rare in Asian patients, and gene analysis should be considered for patients with adult\u2010onset rimmed vacuolar myopathy with neurogenic changes. A wide variety of central and peripheral nervous system symptoms coupled with rare bone abnormalities may complicate diagnosis.<\/jats:p>","DOI":"10.1111\/j.1468-1331.2011.03575.x","type":"journal-article","created":{"date-parts":[[2011,10,31]],"date-time":"2011-10-31T14:59:24Z","timestamp":1320073164000},"page":"501-509","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":57,"title":["Characterization of the Asian myopathy patients with <i>VCP<\/i> mutations"],"prefix":"10.1111","volume":"19","author":[{"given":"Z.","family":"Shi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y. 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