BEDSIDE DIAGNOSIS OF RIPPLING MUSCLE DISEASE IN CAV3 p.A46T MUTATION CARRIERS
- Auteur
- SUNDBLOM, Jimmy1 ; STALBERG, Erik2 ; MELBERG, Atle1 ; ÖSTERDAHL, Maria3 ; RÜCKER, Franz4 ; MONTELIUS, Maria5 ; KALIMO, Hannu6 ; NENNESMO, Inger7 ; ISLANDER, Gunilla8 ; SMITS, Anja1 ; DAHL, Niklas5
[1] Department of Neuroscience, Neurology, University Hospital, Uppsala University, 751 85 Uppsala, Sweden
[2] Department of Neuroscience, Clinical Neurophysiology, University Hospital, Uppsala University, 751 85 Uppsala, Sweden
[3] Department of Pediatrics, Visby Hospital, 621 84 Visby, Sweden
[4] Department of Medicine, Visby Hospital, 621 84 Visby, Sweden
[5] Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University and University Hospital, 751 85 Uppsala, Sweden
[6] Department of Pathology, Uppsala University and Uppsala University Hospital, SE-751 85 Uppsala, Sweden, and Department of Pathology, University of Helsinki, Helsinki, Finland
[7] Division of Pathology, Karolinska University Hospital Huddinge, 141 86 Huddinge, Sweden
[8] MH Unit, Department of Intensive- and perioperative care, Lund University Hospital, 221 85 Lund, Sweden - Source
Muscle & nerve. 2010, Vol 41, Num 6, pp 751-757, 7 p ; ref : 31 ref
- CODEN
- MUNEDE
- ISSN
- 0148-639X
- Domaine scientifique
- Neurology; Physiology, morphology
- Editeur
- Wiley, Hoboken, NJ
- Pays de publication
- United States
- Type de document
- Article
- Langue
- English
- Mot clé auteur
- Caveolin-3 electromyogram mutation rippling stiffness
- Mot clé (fr)
- Activité électrique Biopsie Diagnostic Déficit Homme Muscle Mutation faux sens Ondulation Phénotype Porteur Rigidité Faiblesse Electrophysiologie
- Mot clé (en)
- Electrical activity Biopsy Diagnosis Deficiency Human Muscle Missense mutation Ripple Phenotype Carrier Stiffness Weakness Electrophysiology
- Mot clé (es)
- Actividad eléctrica Biopsia Diagnóstico Déficiencia Hombre Músculo Mutación falso sentido Ondulación Fenotipo Portador Rigidez Electrofisiología
- Classification
- Pascal
- 002 Sciences biologiques et medicales / 002A Sciences biologiques fondamentales et appliquees. Psychologie / 002A23 Vertebres: systeme osteoarticulaire, muscle strie / 002A23B Muscle strié. Tendons
- Discipline
- Vertebrates : osteoarticular system, musculoskeletal system
- Provenance
- Inist-CNRS
- Base de données
- PASCAL
- Identifiant INIST
- 22824269
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/mus.21589 
https://dx.doi.org/10.1002/mus.21589
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