RT Journal Article
T1 Lipodystrophic laminopathies: Diagnostic clues
A1 Guillín-Amarelle, Cristina
A1 Fernández-Pombo, Antía
A1 Sánchez Iglesias, Sofía
A1 Araujo-Vilar, David
K1 Diagnosis
K1 Laminopathies
K1 LMNA
K1 Progeria
K1 Type 2 familial partial lipodystrophy
AB 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
PB Taylor & Francis
SN 1949-1034
YR 2018
FD 2018-04-16
LK http://hdl.handle.net/10347/32135
UL http://hdl.handle.net/10347/32135
LA eng
NO NUCLEUS, 2018 VOL. 9, NO. 1, 249–260 https://doi.org/10.1080/19491034.2018.1454167
NO This study has been funded by the Instituto de Salud Carlos III (grant number: PI081449) and the European Regional Development Fund, FEDER and by the Asociación Espanola de Familiares y Afectados de Lipodistrofias (AELIP)
DS Minerva
RD 28 abr 2026