A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy
- Author
- ARAUJO-VILAR, David1 ; LADO-ABEAL, Joaquin1 ; MARTINEZ-SANCHEZ, Noelia1 ; VICTORIA, Berta1 ; COSTA-FREITAS, Ana Teresa1 ; PALOS-PAZ, Fernando1 ; LATTANZI, Giovanna2 ; BANDIN, Manuel A3 ; BELLIDO, Diego4 ; DOMINGUEZ-GERPE, Lourdes1 ; CALVO, Carlos5 ; PEREZ, Oscar1 ; RAMAZANOVA, Alia1
[1] Thyroid and Metabolic Diseases Unit (UETeM), Department of Medicine, School of Medicine, University of Santiago de Compostela, Santiago de Compostela, Spain
[2] IGM-CNR Unit of Bologna c/o IOR, Bologna, Italy
[3] Division of Cardiology, Hospital Clínico de Santiago de Compostela, Santiago de Compostela, Spain
[4] Division of Endocrinology, Hospital Arquitecto Marcide, O Ferrol, Spain
[5] Unit of Hypertension and Vascular Risk, Department of Internal Medicine, Hospital Clínico de Santiago de Compostela, Santiago de Compostela, Spain - Source
Clinical endocrinology (Oxford. Print). 2008, Vol 69, Num 1, pp 61-68, 8 p ; ref : 44 ref
- CODEN
- CLECAP
- ISSN
- 0300-0664
- Scientific domain
- Endocrinology
- Publisher
- Blackwell, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Association Cardiomyopathie hypertrophique Endocrinologie Expression génique Génétique Insuline Insulinorésistance Lipodystrophie Mutation Partiel Phénotype Résistance tissu cible Sténose aortique Gène LMNA Rétrécissement valvule aortique Cardiopathie valvulaire Endocrinopathie Hormone pancréatique Maladie métabolique Pathologie de l'appareil circulatoire Pathologie de la peau Pathologie du myocarde Pathologie du tissu adipeux
- Keyword (en)
- Association Hypertrophic cardiomyopathy Endocrinology Gene expression Genetics Insulin Insulin resistance Lipodystrophy Mutation Partial Phenotype Target tissue resistance Aortic stenosis Aortic stenosis Cardiac valvular disease Endocrinopathy Pancreatic hormone Metabolic diseases Cardiovascular disease Skin disease Myocardial disease Adipose tissue disorders
- Keyword (es)
- Asociación Cardiomiopatía hipertrófica Endocrinología Expresión genética Genética Insulina Resistancia insulina Lipodistrofia Mutación Parcial Fenotipo Resistencia tejido blanco Estenosis aórtica Cardiopatía valvular Endocrinopatía Hormona pancreática Metabolismo patología Aparato circulatorio patología Piel patología Miocardio patología Tejido adiposo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A28 Vertebrates: endocrinology
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08J Skin involvement in other diseases. Miscellaneous. General aspects
- Discipline
- Dermatology Endocrinopathies Vertebrates : endocrinology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20440300
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
10.1111/j.1365-2265.2007.03146.x 
https://dx.doi.org/10.1111/j.1365-2265.2007.03146.x
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