Results 191 to 200 of about 5,061 (213)
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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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Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies. [PDF]
, 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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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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Laminopathies: The molecular background of the disease and the prospects for its treatment
Cellular and Molecular Biology Letters, 2011Magdalena Zaremba-Czogalla +2 more
exaly
[Laminopathies. Nuclear lamina diseases].
Medicina clinica, 2012Laminopathies 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
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