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The laminopathies: a clinical review
Clinical Genetics, 2006The laminopathies are a diverse group of conditions caused by mutations in the LMNA gene (MIM*150330). LMNA encodes the nuclear envelope proteins lamin A and lamin C by utilization of an alternative splice site in exon 10. The human LMNA gene was identified in 1986 but it was another 13 years before it was found to be the causative gene for a disease ...
J, Rankin, S, Ellard
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Restrictive dermopathy: a rare laminopathy
Archives of Gynecology and Obstetrics, 2008Restrictive dermopathy (RD) belongs to the laminopathies and mostly shows an autosomal recessive heredity pattern. This rare genetic disorder is lethal for the newborn in the neonatal period. Clinical and pathological findings are distinctive and allow for a specific diagnosis in most cases.
Marc, Thill +6 more
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‘State-of-the-heart’ of cardiac laminopathies
Current Opinion in Cardiology, 2013LMNA gene encodes the nuclear A-type lamins. LMNA mutations are associated with more than 10 clinical entities and represent one of the first causes of inherited dilated cardiomyopathy. LMNA-dilated cardiomyopathy is associated with conduction disease (DCM-CD) and is a severe and aggressive form of DCM. However, pathogenesis remains largely unknown and
Marie-Elodie, Cattin +2 more
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Laminopathies: Multisystem dystrophy syndromes
Molecular Genetics and Metabolism, 2006Laminopathies are a heterogeneous group of genetic disorders due to abnormalities in type A lamins and can manifest varied clinical features affecting many organs including the skeletal and cardiac muscle, adipose tissue, nervous system, cutaneous tissue, and bone.
Katherine N, Jacob, Abhimanyu, Garg
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Clinical and genetic heterogeneity in laminopathies
Biochemical Society Transactions, 2011Mutations in the LMNA gene encoding lamins A/C are responsible for more than ten different disorders called laminopathies which affect various tissues in an isolated (striated muscle, adipose tissue or peripheral nerve) or systemic (premature aging syndromes) fashion. Overlapping phenotypes are also observed.
Anne T, Bertrand +3 more
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Emerinopathies and Laminopathies
2013Emerinopathies and laminopathies are disorders caused by alterations in genes coding for ubiquitous proteins of the nuclear envelope.
Nicola Carboni, Marco Mura
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Changes in the Nuclear Envelope in Laminopathies
2018Double-membrane-bound nucleus is the major organelle of every metazoan cell, which controls various nuclear processes like chromatin maintenance, DNA replication, transcription and nucleoskeleton-cytoskeleton coupling. Nuclear homeostasis depends on the integrity of nuclear membrane and associated proteins. Lamins, underlying the inner nuclear membrane
Subarna, Dutta +2 more
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Novartis Foundation symposium, 2005
Laminopathies are now recognized as a group of disorders due to mutations of the LMNA gene, which encodes A-type lamins. Primarily, mutations in LMNA have been associated to the autosomal forms of Emery-Dreifuss muscular dystrophy, a rare slowly progressive humero-peroneal muscular dystrophy accompanied by early contractures and dilated cardiomyopathy ...
Rabah, Ben Yaou +6 more
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Laminopathies are now recognized as a group of disorders due to mutations of the LMNA gene, which encodes A-type lamins. Primarily, mutations in LMNA have been associated to the autosomal forms of Emery-Dreifuss muscular dystrophy, a rare slowly progressive humero-peroneal muscular dystrophy accompanied by early contractures and dilated cardiomyopathy ...
Rabah, Ben Yaou +6 more
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Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies. [PDF]
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2011 Prelamin A is the precursor protein of lamin A, a major constituent of the nuclear lamina in higher eukaryotes. Increasing attention to prelamin A processing and function has been given after the discovery, from 2002 to 2004, of diseases caused by prelamin A accumulation. These diseases, belonging to the group of laminopathies and mostly featuring LMNA
Lattanzi G +8 more
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[Cardiac manifestations of laminopathies].
Archives des maladies du coeur et des vaisseaux, 2005Dilated cardiomyopathy (DCM) of genetic origin represents about 25% of all so-called primary DCM. Cases due to mutation of the gene which codes the lamins A and C (LMNA) carry a poor prognosis with a high risk of sudden death. The finding of primary DCM in a young person associated with conduction defects or arrhythmias should lead to investigation for
S, Brette +4 more
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