2 documents found, page 1 of 1
Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle...
Liberato, Christiane Bezerra Rocha; Olegario, Natália Bitar da Cunha; Fernandes, Virginia Oliveira; Montenegro, Ana Paula Dias RangelPurpose: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the absence of functional adipocytes resulting in ectopic lipid storage, metabolic disorders and early cardiovascular disease. Two-dimensional speckle-tracking (2D-STE) allows the detection of early abnormalities in myocardial function. We aimed to evaluate myocardial deformation in a large sample of CGL ...
Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy...
Montenegro Junior, Renan Magalhães; Lima, Grayce Ellen da Cruz Paiva; Fernandes, Virgínia Oliveira; Montenegro, Ana Paula Dias RangelBackground: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon after birth, resulting in ectopic fat deposition and severe metabolic disturbances. Most cases are caused by AGPAT2 or BSCL2 gene mutations. We aimed to report two unrelated CGL patients with a novel frameshift mutation in AGPAT2 (p.Leu124Serfs*26...