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• W2071748613 abstract "Laminopathies arise through mutations in genes encoding Lamin A/C (LMNA) or associated proteins. They cause 4 different groups of disorders with diverse severity and often overlapping features: diseases of striated muscle (leading to muscular or cardiac involvement), peripheral neuropathy, lipodystrophy syndromes, and accelerated aging disorders.We report on a familial case of atypical Werner syndrome (a progeroid syndrome with Werner syndrome phenotype but without typical RECQL2 mutation) presenting with acute ischemic cerebral disease or peripheral artery disease associated with diffuse atherosclerosis, attributable to transmission of a novel LMNA mutation.In young patients with ischemic events and a positive family history, other progeroid features have to be searched and LMNA testing has to be considered, allowing for genetic counseling and presymptomatic testing of at-risk relatives." @default.
• W2071748613 created "2016-06-24" @default.
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• W2071748613 date "2009-02-01" @default.
• W2071748613 modified "2023-09-25" @default.
• W2071748613 title "Novel <i>LMNA</i> Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease" @default.
• W2071748613 cites W2002569327 @default.
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• W2071748613 doi "https://doi.org/10.1161/strokeaha.108.531780" @default.
• W2071748613 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19095983" @default.
• W2071748613 hasPublicationYear "2009" @default.
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