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Recent reports have documented cases with PME associated with SCARB2 mutations without renal compromise. Additional neurological features can be demyelinating peripheral neuropathy, hearing loss and dementia. The course of the disease in relentlessly progressive. In this paper we provide an updated overview of the clinical and genetic features of SCARB2\u2010related PME and on the functions of the LIMP2 protein.<\/jats:p>","DOI":"10.1684\/epd.2016.0843","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"source":"Crossref","is-referenced-by-count":32,"title":["SCARB2\/LIMP2 deficiency in action myoclonus\u2010renal failure syndrome"],"prefix":"10.1002","volume":"18","author":[{"given":"Leanne","family":"Dibbens","sequence":"first","affiliation":[{"name":"Epilepsy Research Group, School of Pharmacy and Medical Sciences University of South Australia, and Sansom Institute for Health Research  South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Schwake","sequence":"additional","affiliation":[{"name":"Fakult\u00e4t f\u00fcr Chemie Universit\u00e4t Bielefeld  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Saftig","sequence":"additional","affiliation":[{"name":"Biochemical Institute Christian\u2010Albrechts\u2010University Kiel  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Rubboli","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Filadelfia\/University of Copenhagen  Dianalund Denmark"},{"name":"IRCCS, Institute of Neurologicak Sciences, Bellaria Hospital  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,28]]},"reference":[{"key":"e_1_2_13_2_1","first-page":"670","article-title":"Cycling of an 85\u2010kDa lysosomal membrane glycoprotein between the cell surface and lysosomes in cultured rat hepatocytes","volume":"116","author":"Akasaki K","year":"1994","journal-title":"J Biochem"},{"key":"e_1_2_13_3_1","first-page":"87","article-title":"Action 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