首页> European journal of medical genetics> A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.

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第一作者： L,Licchetta

第一单位： IRCCS Istituto delle Scienze Neurologiche of Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. Electronic address: laura.licchetta2@unibo.it.

作者： L,Licchetta ^[1] ; F,Bisulli ^[2] ; M,Fietz ^[3] ; M L,Valentino ^[2] ; M,Morbin ^[4] ; B,Mostacci ^[5] ; K L,Oliver ^[6] ; S F,Berkovic ^[6] ; P,Tinuper ^[2]

作者单位： IRCCS Istituto delle Scienze Neurologiche of Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. Electronic address: laura.licchetta2@unibo.it. ^[1] IRCCS Istituto delle Scienze Neurologiche of Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. ^[2] Department of Biochemical Genetics, SA Pathology, Adelaide, South Australia, Australia. ^[3] Neuropathology & Neurology V - IRCCS Foundation "Istituto Neurologico Carlo Besta", Milan, Italy. ^[4] IRCCS Istituto delle Scienze Neurologiche of Bologna, Italy. ^[5] Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia. ^[6]

关键词 Autophagic vacuolar myopathy CLN3 Delayed-classic JNCL Juvenile neuronal ceroid lipofuscinosis (JNCL)