The enlarging spectrum of desminopathies: New morphological findings, eastward geographic spread, novel exon 3 desmin mutation

Acta Neuropathologica

Volumn 109, Issue 4, 2005, Pages 411-417

  Vrabie, Alexandra ^a   Goldfarb, Lev G ^b   Shatunov, Alexey ^b   Nägele, Andrea ^c   Fritz, Peter ^d   Kaczmarek, Ingo ^e   Goebel, Hans H ^a  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c Christophsbad ^*  (Germany)

^d ROBERT BOSCH HOSPITAL   (Germany)

^e UNIVERSITY OF MUNICH   (Germany)

Author keywords

Cardiomyopathy; Desmin mutation; Desminopathy; Granulofilamentous material; Skeletal myopathy

Indexed keywords

ALPHA CRYSTALLIN; DESMIN;

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; DESMINOPATHY; EXON; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; GEOGRAPHIC PATHOLOGY; HEART ARRHYTHMIA; HEART MUSCLE CELL; HEART TRANSPLANTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; PRIORITY JOURNAL; PROTEIN ANALYSIS; RESTRICTIVE CARDIOMYOPATHY; SKELETAL MUSCLE;

ADULT; ALPHA-CRYSTALLIN B CHAIN; ASPARTIC ACID; CARDIOMYOPATHY, RESTRICTIVE; CHROMOSOMES, HUMAN, PAIR 2; DESMIN; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; GLUTAMIC ACID; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; MYOCARDIUM; STAINING AND LABELING;

EID: 18344374698     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-005-0980-1     Document Type: Article

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