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

Iram Hussain | Zendy; Nivedita Patni | Zendy; Masako Ueda | Zendy; Ekaterina Sorkina | Zendy; Cynthia Melissa Valério | Zendy; Elaine Cochran | Zendy; Rebecca J. Brown | Zendy; Joseph Peeden | Zendy; Yulia V. Tikhonovich | Zendy; Anatoly Tiulpakov | Zendy; Sarah Stender | Zendy; Elisabeth Klouda | Zendy; Marwan K. Tayeh | Zendy; Jeffrey W. Innis | Zendy; Anders R.L. Meyer | Zendy; Priti Lal | Zendy; Amélio F. GodoyMatos | Zendy; Milena Gurgel Teles | Zendy; Beverley AdamsHuet | Zendy; Daniel J. Rader | Zendy; Robert A. Hegele | Zendy; Elif A Oral | Zendy; Abhimanyu Garg | Zendy

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

Author(s) -

Iram Hussain,

Nivedita Patni,

Masako Ueda,

Ekaterina Sorkina,

Cynthia Melissa Valério,

Elaine Cochran,

Rebecca J. Brown,

Joseph Peeden,

Yulia V. Tikhonovich,

Anatoly Tiulpakov,

Sarah Stender,

Elisabeth Klouda,

Marwan K. Tayeh,

Jeffrey W. Innis,

Anders R.L. Meyer,

Priti Lal,

Amélio F. GodoyMatos,

Milena Gurgel Teles,

Beverley AdamsHuet,

Daniel J. Rader,

Robert A. Hegele,

Elif A Oral,

Abhimanyu Garg

Publication year - 2017

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - Uncategorized

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2017-02078

Subject(s) - lmna , lipodystrophy , progeria , medicine , endocrinology , hypertriglyceridemia , metabolic syndrome , diabetes mellitus , genetics , mutation , biology , triglyceride , immunology , cholesterol , gene , antiretroviral therapy , viral load , human immunodeficiency virus (hiv)

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 features, suggesting a distinct progeroid syndrome.

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