A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation

Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome (APS). Five of the 31 previously reported patients with APS harbored a recurrent de novo heterozygous LMNA p.T...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2018-03, Vol.103 (3), p.1005-1014
Hauptverfasser:	Hussain, Iram, Patni, Nivedita, Ueda, Masako, Sorkina, Ekaterina, Valerio, Cynthia M, Cochran, Elaine, Brown, Rebecca J, Peeden, Joseph, Tikhonovich, Yulia, Tiulpakov, Anatoly, Stender, Sarah R S, Klouda, Elisabeth, Tayeh, Marwan K, Innis, Jeffrey W, Meyer, Anders, Lal, Priti, Godoy-Matos, Amelio F, Teles, Milena G, Adams-Huet, Beverley, Rader, Daniel J, Hegele, Robert A, Oral, Elif A, Garg, Abhimanyu
Format:	Artikel
Sprache:	eng
Schlagworte:	Absorptiometry, Photon - methods Acanthosis nigricans Adolescent Adult Anthropometry - methods Cardiomyopathy Child Cholesterol Clinical s Diabetes mellitus Dysplasia Fatty liver Female Heart transplantation Humans Hyperglycemia Hypertriglyceridemia Insulin Lamin Type A - genetics Leptin Lipodystrophy Lipodystrophy, Congenital Generalized - genetics Lipodystrophy, Congenital Generalized - metabolism Lipodystrophy, Congenital Generalized - pathology Magnetic Resonance Imaging - methods Male Metabolism Middle Aged Morbidity Mutation Myocardium - pathology Phenotype Progeria Progeria - genetics Progeria - metabolism Progeria - pathology Skin pigmentation Steatosis
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