Cytoskeleton and Human Disease 2012
DOI: 10.1007/978-1-61779-788-0_18
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Laminopathies

Abstract: The laminopathies are a group of rare diseases characterized by a vast range of phenotypic alterations, due to mutations in lamin A and C or other nuclear envelope proteins. A-type lamins, as well as B-type lamins, belong to the type V intermediate filaments and, by polymerization, form the nuclear lamina, a component of the nuclear envelope. Following a brief description of the complex interactions between lamins and proteins of the nuclear membrane, this Chapter describes disease phenotypes that characterize… Show more

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