title: Nuclear envelope and striated muscle diseases.
abstract: The nuclear lamina is a mesh-like network of intermediate filaments localized mainly at the inner surface of the inner nuclear membrane and is composed of proteins called lamins. Many inherited diseases are linked with mutations in nuclear lamins and integral proteins of the inner nuclear membrane. In this article, we summarize basic aspects of the nuclear envelope architecture and provide some remarkable findings of the involvement of lamins in striated muscle disorders.
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, Center of Research in Myology, UMRS 974, F-75013 Paris, France; INSERM U974, F-75013 Paris, France; CNRS FRE 3617, F-75013 Paris, France; Institut de Myologie, F-75013 Paris, France.
authors.forename: Maria
authors.initials: M
authors.lastname: Chatzifrangkeskou
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, Center of Research in Myology, UMRS 974, F-75013 Paris, France; INSERM U974, F-75013 Paris, France; CNRS FRE 3617, F-75013 Paris, France; Institut de Myologie, F-75013 Paris, France; Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, U.F. Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Paris F-75013, France. Electronic address: g.bonne@institut-myologie.org.
authors.forename: Gisèle
authors.initials: G
authors.lastname: Bonne
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, Center of Research in Myology, UMRS 974, F-75013 Paris, France; INSERM U974, F-75013 Paris, France; CNRS FRE 3617, F-75013 Paris, France; Institut de Myologie, F-75013 Paris, France.
authors.forename: Antoine
authors.initials: A
authors.lastname: Muchir
mesh_terms: D000818:Animals; D006801:Humans; D034882:Lamins / Q000378:metabolism*; D054792:Muscle, Striated / Q000473:pathology; D009135:Muscular Diseases / Q000378:metabolism / Q000473:pathology*; D009154:Mutation; D009685:Nuclear Envelope / Q000378:metabolism*; D034881:Nuclear Lamina / Q000235:genetics / Q000378:metabolism
chemical_list: D034882:Lamins