Inclusion body myopathy with paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family

Archives of Neurology

Volumn 68, Issue 6, 2011, Pages 787-796

  Kim, Eun Joo ^a   Park, Young Eun ^a   Kim, Dae Seong ^b   Ahn, Bo Young ^a   Kim, Hyang Sook ^a   Chang, Young Hee ^c   Kim, Seong Jang ^a   Kim, Hak Jin ^a   Lee, Ho Won ^d   Seeley, William W ^e   Kim, SangYun ^c  

^a Pusan National University Hospital   (South Korea)

^b Pusan National University   (South Korea)

^c Seoul National University Bundang Hospital   (South Korea)

^d Kyungpook National University School of Medicine   (South Korea)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; APOLIPOPROTEIN E; ARGININE; CREATINE KINASE; CYSTEINE; TECHNETIUM 99M; VALOSIN CONTAINING PROTEIN;

ADULT; AGED; AGNOSIA; ANOMIA; APHASIA; ARTICLE; BACKACHE; BEHAVIOR CHANGE; BONE SCINTISCANNING; BRAIN ATROPHY; CASE REPORT; CHROMOSOME 9P; COMPREHENSION; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; ELECTROPHYSIOLOGY; ETHNICITY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENOTYPE; HEADACHE; HUMAN; HUMAN TISSUE; INCLUSION BODY MYOPATHY; KOREAN; LANGUAGE DISABILITY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MINI MENTAL STATE EXAMINATION; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PAGET BONE DISEASE; PRIORITY JOURNAL; PROSOPAGNOSIA; SEMANTIC DEMENTIA; SPEECH DISORDER; TENDON REFLEX;

ADENOSINE TRIPHOSPHATASES; AGED; AMINO ACID SUBSTITUTION; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; CELL CYCLE PROTEINS; CYSTEINE; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC LINKAGE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYOSITIS, INCLUSION BODY; OSTEITIS DEFORMANS; PEDIGREE;

EID: 79958699242     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2010.376     Document Type: Article

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