• Medicina clinica · Mar 2012

    Review

    [Laminopathies. Nuclear lamina diseases].

    • Iván Méndez-López.
    • Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY, USA. ivan.mendez.lopez@cfnavarra.es
    • Med Clin (Barc). 2012 Mar 3; 138 (5): 208214208-14.

    AbstractLaminopathies are a group of diseases that share wrong codification of lamins, building proteins of the nuclear lamina. Different tissues are affected in those disorders: striated muscle, adipose tissue, central or peripheral nervous system and aging process. Emery-Dreifuss muscular dystrophy and Hutchinson-Gildford Progery Syndrome are two examples of laminopathies. Other diseases, due to mutations in different genes, impair lamins function by a direct or an indirect way and they are frequently considered together. The last decade has seen an increasing interest and scientific advances on laminopathies that will allow us to answer key questions regarding metabolism, insulin resistance, sudden death and aging. Laminopathies are reviewed in this article from a molecular, pathogenic and clinical point of view.Copyright © 2011 Elsevier España, S.L. All rights reserved.

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