Zaspopathy in a large classic late-onset distal myopathy family

Brain

Volumn 130, Issue 6, 2007, Pages 1477-1484

  Griggs, R ^a   Vihola, A ^b   Hackman, P ^b   Talvinen, K ^c   Haravuori, H ^b   Faulkner, G ^d   Eymard, B ^e   Richard, I ^f   Selcen, D ^g   Engel, A ^g   Carpen, O ^b,c   Udd, B ^b,h,i  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^b UNIVERSITY OF HELSINKI   (Finland)

^c TURKU UNIVERSITY HOSPITAL   (Finland)

^d INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f GÉNÉTHON   (France)

^g MAYO CLINIC   (United States)

^h VAASA CENTRAL HOSPITAL   (Finland)

ⁱ TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

Distal myopathy; Myofibrillar myopathy; ZASP

Indexed keywords

ALPHA ACTININ; CELL PROTEIN; CONNECTIN; CRYSTALLIN; DESMIN; MUSCLE PROTEIN; MYOTILIN; UNCLASSIFIED DRUG; Z BAND ALTERNATIVELY SPLICED PDZ MOTIF CONTAINING PROTEIN; LDB3 PROTEIN, HUMAN; MICROSATELLITE DNA; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; FEMALE; GENE LOCUS; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN TISSUE; IMAGING; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; LEG MUSCLE; MALE; MUSCLE; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; ZASPOPATHY; BIOPSY; DISTAL MYOPATHY; GENETICS; LEG; METABOLISM; METHODOLOGY; MIDDLE AGED; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PEDIGREE; SKELETAL MUSCLE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; BIOPSY; DISTAL MYOPATHIES; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HUMANS; LEG; MAGNETIC RESONANCE IMAGING; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; PEDIGREE;

EID: 34250861423     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm006     Document Type: Article

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