A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation

Neurology

Volumn 57, Issue 12, 2001, Pages 2273-2277

  Vorgerd, M ^a,f   Ricker, K ^b   Ziemssen, F ^a   Kress, W ^b   Goebel, H H ^c   Nix, W A ^c   Kubisch, C ^d   Schoser, B G H ^e   Mortier, W ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

^d UNIVERSITY OF BONN   (Germany)

^e UNIVERSITY OF HAMBURG   (Germany)

^f RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CAVEOLIN 3; DYSTROGLYCAN; NITRIC OXIDE SYNTHASE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 3P; CLINICAL EXAMINATION; ENZYME ACTIVITY; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE CONTRACTION; MYOPATHY; PRIORITY JOURNAL; RIPPLING MUSCLE DISEASE; SARCOLEMMA;

EID: 0035956556     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.12.2273     Document Type: Article

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