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10.1080/19491034.2018.1454167

http://scihub22266oqcxt.onion/10.1080/19491034.2018.1454167
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C5973260!5973260!29557732
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suck abstract from ncbi

pmid29557732      Nucleus 2018 ; 9 (1): 249-60
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  • Lipodystrophic laminopathies: Diagnostic clues #MMPMID29557732
  • Guillín-Amarelle C; Fernández-Pombo A; Sánchez-Iglesias S; Araújo-Vilar D
  • Nucleus 2018[]; 9 (1): 249-60 PMID29557732show ga
  • The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate filaments called lamins, and exerts essential functions to maintain the cellular viability. Lamin A/C provides mechanical steadiness to the nucleus and regulates genetic machinery. Laminopathies are tissue-specific or systemic disorders caused by variants in LMNA gene (primary laminopathies) or in other genes encoding proteins which are playing some role in prelamin A maturation or in lamin A/C function (secondary laminopathies). Those disorders in which adipose tissue is affected are called laminopathic lipodystrophies and include type 2 familial partial lipodystrophy and certain premature aging syndromes. This work summarizes the main clinical features of these syndromes, their associated comorbidities and the clues for the differential diagnosis with other lipodystrophic disorders.
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