A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin

Journal of Neurology

Volumn 251, Issue 2, 2004, Pages 143-149

  Dagvadorj, Ayush ^a   Olivé, Montse ^b   Urtizberea, Jean Andoni ^c   Halle, Martin ^d   Shatunov, Alexey ^a   Bönnemann, Carsten ^e   Park, Kye Yoon ^a   Goebel, Hans H ^f   Ferrer, Isidro ^b   Vicart, Patrick ^g   Dalakas, Marinos C ^a   Goldfarb, Lev G ^a  

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

^b HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^c RAYMOND POINCARÉ HOSPITAL   (France)

^d UNIVERSITY OF GÖTTINGEN   (Germany)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^f JOHANNES GUTENBERG UNIVERSITY   (Germany)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Cardiomyopathy; De novo mutation; Desmin gene; Skeletal myopathy

Indexed keywords

DESMIN;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CARDIOMYOPATHY; CASE REPORT; CHROMOSOME MUTATION; EUROPE; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CONSERVATION; HUMAN; MALE; MYOPATHY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN MOTIF; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; SKELETAL MUSCLE; STRUCTURE ANALYSIS;

ADOLESCENT; ADULT; AMINO ACID MOTIFS; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CARDIOMYOPATHIES; CONSERVED SEQUENCE; DESMIN; DISEASE PROGRESSION; EUROPE; FEMALE; HEART BLOCK; HUMANS; MALE; MODELS, MOLECULAR; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; MYOCARDIUM; PEDIGREE; PROTEIN STRUCTURE, SECONDARY;

EID: 10744229630     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-004-0289-3     Document Type: Article

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