Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
作者信息
Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, Moggio M, Chiveri L, Hausmanova-Petrusewicz I, Ricotti R, Vohanka S, Toman J, Toniolo D
机构信息
Institute of Molecular Genetics-CNR, Via Abbiategrasso 207, Pavia, Italy.
出版信息
J Med Genet. 2003 Dec;40(12):e132. doi: 10.1136/jmg.40.12.e132.
Abstract
摘要
相似文献
1
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
J Med Genet. 2003 Dec;40(12):e132. doi: 10.1136/jmg.40.12.e132.
2
Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.
J Cell Sci. 2001 Dec;114(Pt 24):4447-57. doi: 10.1242/jcs.114.24.4447.
3
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Ann Neurol. 2000 Aug;48(2):170-80.
4
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
N Engl J Med. 1999 Dec 2;341(23):1715-24. doi: 10.1056/NEJM199912023412302.
5
Emery-Dreifuss muscular dystrophy.
Eur J Hum Genet. 2002 Mar;10(3):157-61. doi: 10.1038/sj.ejhg.5200744.
6
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.
Eur Heart J. 2003 Dec;24(24):2227-36. doi: 10.1016/j.ehj.2003.09.020.
7
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
J Hum Genet. 2002;47(5):225-8. doi: 10.1007/s100380200029.
8
Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy.
Acta Myol. 2003 Sep;22(2):52-7.
9
Mutation analysis in Emery-Dreifuss muscular dystrophy.
Pediatr Neurol. 1999 Jul;21(1):456-9. doi: 10.1016/s0887-8994(99)00023-5.
10
Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy.
Eur J Cell Biol. 2005 Sep;84(9):765-81. doi: 10.1016/j.ejcb.2005.04.004.
引用本文的文献
1
Perinuclear organelle trauma at the nexus of cardiomyopathy pathogenesis arising from loss of function mutation.
Nucleus. 2025 Dec;16(1):2449500. doi: 10.1080/19491034.2024.2449500. Epub 2025 Jan 9.
2
Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel Pathogenic Variant.
Mol Syndromol. 2024 Dec;15(6):517-522. doi: 10.1159/000538917. Epub 2024 Jun 10.
3
Nuclear mechanosignaling in striated muscle diseases.
Front Physiol. 2023 Mar 7;14:1126111. doi: 10.3389/fphys.2023.1126111. eCollection 2023.
4
Detection of gonosomal mosaicism by ultra-deep sequencing and droplet digital PCR in patients with Emery-Dreifuss muscular dystrophy.
Mol Genet Genomic Med. 2023 Jun;11(6):e2161. doi: 10.1002/mgg3.2161. Epub 2023 Mar 10.
5
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Cells. 2022 Dec 15;11(24):4065. doi: 10.3390/cells11244065.
6
Nucleoplasmic lamin C rapidly accumulates at sites of nuclear envelope rupture with BAF and cGAS.
J Cell Biol. 2022 Dec 5;221(12). doi: 10.1083/jcb.202201024. Epub 2022 Oct 27.
7
Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.
BMC Pediatr. 2022 Oct 17;22(1):601. doi: 10.1186/s12887-022-03662-y.
8
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.
Aging Cell. 2022 Nov;21(11):e13688. doi: 10.1111/acel.13688. Epub 2022 Oct 12.
9
In Silico and In Vivo Analysis of Amino Acid Substitutions That Cause Laminopathies.
Int J Mol Sci. 2021 Oct 18;22(20):11226. doi: 10.3390/ijms222011226.
10
Partial Lipodystrophy and LMNA p.R545H Variant.
J Clin Med. 2021 Mar 9;10(5):1142. doi: 10.3390/jcm10051142.
Zotero 插件