Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people

Journal of Neurology

Volumn 259, Issue 9, 2012, Pages 1913-1922

  Cai, Huaying ^a   Yabe, Ichiro ^a   Sato, Kazunori ^a   Kano, Takahiro ^a   Nakamura, Masakazu ^a   Hozen, Hideki ^b   Sasaki, Hidenao ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Obihiro Kosei Hospital   (Japan)

Author keywords

Desmin; Inclusion body myositis; Myosin heavy chain IIa (MYHC2A); UDP Nacetylglucosamine 2 epimerase N acetylmannosamine kinase (GNE); Valosin containing protein (VCP); Z band alternatively spliced PDZ motif containing protein (ZASP)

Indexed keywords

DESMIN; MYOSIN HEAVY CHAIN; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ADULT; AGED; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DESMIN GENE; EXON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENOTYPE; GNE GENE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INCLUSION BODY MYOSITIS; JAPANESE; JOINT CONTRACTURE; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE CELL; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYHC IIA GENE; MYHC IIX GENE; MYHC2A GENE; OPHTHALMOPLEGIA; PAGET BONE DISEASE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; VCP GENE; ZASP GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CELL CYCLE PROTEINS; CONFIDENCE INTERVALS; DESMIN; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LIM DOMAIN PROTEINS; MALE; MIDDLE AGED; MULTIENZYME COMPLEXES; MUSCLE, SKELETAL; MUTATION; MYOSIN HEAVY CHAINS; MYOSITIS, INCLUSION BODY; RETROSPECTIVE STUDIES;

EID: 84867330908     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6439-0     Document Type: Article

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