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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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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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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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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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[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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Revista de neurologia, 2004
Our aim was to clinically characterise Emery-Dreifuss muscular dystrophy, to differentiate the X-linked forms of inheritance from the forms involving autosomal dominant inheritance, from a genetic point of view, and to describe the phenotypical heterogeneity of mutations in the LMNA gene itself.We describe the identification of the mutations in the ...
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Our aim was to clinically characterise Emery-Dreifuss muscular dystrophy, to differentiate the X-linked forms of inheritance from the forms involving autosomal dominant inheritance, from a genetic point of view, and to describe the phenotypical heterogeneity of mutations in the LMNA gene itself.We describe the identification of the mutations in the ...
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Cardiovascular complications of lipodystrophic syndromes – focus on laminopathies
Annales D'Endocrinologie, 2021Isabelle Jeru +2 more
exaly