Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations
- Author
- MUCHIR, A1 ; MEDIONI, J2 3 ; HIRANO, M8 ; WORMAN, H. J9 ; MALLET, A2 3 ; WEHNERT, M10 ; SCHWARTZ, K1 ; BONNE, G1 ; LALUC, M1 ; MASSART, C1 ; ARIMURA, T1 ; VAN DER KOOI, A. J4 ; DESGUERRE, I5 ; MAYER, M5 ; FERRER, X6 ; BRIAULT, S7
[1] INSERM U582, Institut de Myologie, GH Pitié-Salpêtrière, Bâtiment Babinski, 47 boulevard de l'Hôpital, Paris 75013, France
[2] Biostatistics and Computer Sciences Department, GH Pitié-Salpêtrière, Paris, France
[3] Departement de Biostatistiques et d'Informatique Médicale, GH Pitié-Salpêtrière, Paris, France
[4] Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands
[5] Service de Neuro-Pédiatrie, Hôpital Saint-Vincent de Paul, Paris, France
[6] Service de Neurologie, Hôpital Haut-Lévêque, Bordeaux, Tours, France
[7] Service de Génétique, INSERM U619, CHU Tours, Tours, France
[8] Department of Neurology, College of Physicians & Surgeons, Columbia University, New York, New York, United States
[9] Departments of Medicine and of Anatomy and Cell Biology, College of Physicians & Surgeons, Columbia University, New York, New York, United States
[10] Institute or Human Genetics, University of Greifswald, Greifswald, Germany - Source
Muscle & nerve. 2004, Vol 30, Num 4, pp 444-450, 7 p ; ref : 32 ref
- CODEN
- MUNEDE
- ISSN
- 0148-639X
- Scientific domain
- Neurology; Physiology, morphology
- Publisher
- Wiley, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- lamin; laminopathies; muscular dystrophy nuclear envelope; skin fibroblasts
- Keyword (fr)
- Cardiomyopathie Dystrophie musculaire Fibroblaste Gène Homme Immunofluorescence Lipodystrophie Muscle strié pathologie Mutation Méthode immunoblotting Nerf périphérique Lamine Appareil circulatoire pathologie Cardiopathie Maladie héréditaire Myocarde pathologie Neuromusculaire pathologie Peau pathologie Système nerveux pathologie Tissu adipeux pathologie
- Keyword (en)
- Cardiomyopathy Muscular dystrophy Fibroblast Gene Human Immunofluorescence Lipodystrophy Striated muscle disease Mutation Immunoblotting assay Peripheral nerve Lamin Cardiovascular disease Heart disease Genetic disease Myocardial disease Neuromuscular diseases Skin disease Nervous system diseases Adipose tissue disorders
- Keyword (es)
- Cardiomiopatía Distrofia muscular Fibroblasto Gen Hombre Inmunofluorescencia Lipodistrofia Músculo estriado patología Mutación Western blotting Nervio periférico Aparato circulatorio patología Cardiopatía Enfermedad hereditaria Miocardio patología Neuromuscular patología Piel patología Sistema nervioso patología Tejido adiposo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D03 Carbohydrates (enzymatic deficiencies). Glycogenosis
- Discipline
- Metabolic diseases Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16137168
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.20122 
https://dx.doi.org/10.1002/mus.20122
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