Article
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
The Journal of clinical endocrinology and metabolism - 1 Mar 2018
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
Abstract excerpt
Background: 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.T10I mutation. All five had generalized lipodystrophy, as well as similar metabolic and clinical...
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