Data from: Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations

负责人：

关键词：

LMNA Mutations;Computer-Assisted Image Analysis;Nuclear Envelope;fluorescence microscopy;Dilated Cardiomyopathy

DOI：

doi:10.5061/dryad.sr595

摘要：

splice-site mutation (c.357-2A>G), LMNA nonsense mutation (c.736 C>T, pQ246X) in exon 4, LMNA missense mutation (c.1003C>T, pR335W) in exon

Data from: Paradoxical aortic stiffening and subsequent cardiac dysfunction in Hutchinson–Gilford progeria syndrome

负责人：

关键词：

progeriapulse;wave velocity;diastolic dysfunction;Ageing;Allometric Scaling;aortic stiffness

DOI：

doi:10.5061/dryad.mcvdncjw9

摘要：

Hutchinson–Gilford progeria syndrome (HGPS) is an ultra-rare disorder with devastating sequelae resulting in early death, presently thought to stem