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LMNA mutations in atypical Werner's syndrome
Lancet, The, 2003Werner's syndrome is a progeroid syndrome caused by mutations at the WRN helicase locus. Some features of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lamin A/C. Because of this similarity, we sequenced LMNA in individuals with atypical Werner's syndrome (wild-type WRN).Of 129 index patients referred to our ...
Abhimanyu Garg +2 more
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Mutations in the LMNA gene encoding lamin A/C
Human Mutation, 2000Very recently, mutations within the LMNA gene on chromosome 1q21.2 were shown to result in forms of muscular dystrophy, conduction-system disease, cardiomyopathy, and partial lipodystrophy. The LMNA gene encodes for the nucleophilic A-type lamins, lamin A and lamin C. These isoforms are generated by different splicing within exon 10 of LMNA. Thus lamin
H H Schmidt
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Contemporary Insights into LMNA Cardiomyopathy
Current Cardiology ReportsThis review aims to explore how a diagnosis of LMNA-related cardiomyopathy (LMNA-CM) informs clinical management, focusing on the prevention and management of its complications, through practical clinical strategies.Longitudinal studies have enhanced our understanding of the natural history of LMNA-CM including its arrhythmic and non-arrhythmic ...
Iswaree D, Balakrishnan +1 more
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Normal and aberrant splicing of LMNA
Journal of Medical Genetics, 2014The LMNA gene gives rise to at least three isoforms (lamin A, C, lamin AΔ10) as a result of normal alternative splicing, regulated by cis- and trans-acting regulatory factors, as well as the 5′ and 3′ untranslated regions of the gene. The two main isoforms, lamin A and C, are constitutive components of the fibrous nuclear lamina and have diverse ...
Luo, Y-B, Mastaglia, F.L., Wilton, S.D.
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LMNA mutation in progeroid syndrome in association with strokes
European Journal of Medical Genetics, 2011Hutchinson-Gilford progeria syndrome is a very rare but well-characterized genetic disorder that causes premature ageing. Clinical features affect growth, skeleton, body fat, skin, hair and the cardiovascular system. It is caused by mutations in LMNA gene, the most frequent being p.Gly608Gly (c.1824C > T) in exon 11.
Gonzalez-Quereda L +7 more
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Cardiac phenotypes in LMNA mutations
Current Opinion in CardiologyPurpose of review This review highlights the diverse cardiac manifestations of LMNA mutations, focusing on their underlying molecular mechanisms and clinical implications. As LMNA mutations are implicated in cardiomyopathies, such as dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ARVC), and conduction system ...
openaire +2 more sources