Plectin defects in epidermolysis bullosa simplex with muscular dystrophy

Muscle and Nerve

Volumn 35, Issue 1, 2007, Pages 24-35

  McMillan, J R ^a   Akiyama, M ^a   Rouan, F ^b   Mellerio, J E ^c   Lane, E B ^d   Leigh, I M ^e   Owaribe, K ^f   Wiche, G ^g   Fujii, N ^h   Uitto, J ^b   Eady, R A J ^c   Shimizu, H ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

^e QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^f NAGOYA UNIVERSITY   (Japan)

^g UNIVERSITY OF VIENNA   (Austria)

^h Omuta National Hospital   (Japan)

Author keywords

Epidermolysis bullosa; Intermediate filament; Muscle; Plectin; Z line

Indexed keywords

DESMIN; PLECTIN;

ADULT; ARTICLE; CASE REPORT; CELL VACUOLE; CYTOPLASM; CYTOSKELETON; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; EPIDERMOLYSIS BULLOSA SIMPLEX; EXON; FEMALE; HEMIDESMOSOME; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOGOLD LABELING; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE FIBER MEMBRANE; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SKELETAL MUSCLE; ULTRASTRUCTURE;

ADULT; CELL MEMBRANE; CHILD; CYTOPLASM; CYTOSKELETON; DESMOSOMES; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, IMMUNOELECTRON; MIDDLE AGED; MUSCLE FIBERS, FAST-TWITCH; MUSCLE FIBERS, SLOW-TWITCH; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; PLECTIN; PROTEIN STRUCTURE, TERTIARY;

EID: 33845987032     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20655     Document Type: Article

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