Clinical Utility Gene Card for: Familial partial lipodystrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2016102.pdf
Reference20 articles.
1. Herbst KL, Tannock LR, Deeb SS et al: Köbberling type of familial partial lipodystrophy: an underrecognized syndrome. Diabetes Care 2003; 26: 1819–1824.
2. George S, Rochford JJ, Wolfrum C et al: A family with severe insulin resistance and diabetes due to a mutation in AKT2. Science 2004; 304: 1325–1328.
3. Shackleton S, Lloyd DJ, Jackson SN et al: LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 2000; 24: 153–156.
4. Speckman RA, Garg A, Du F et al: Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Am J Hum Genet 2000; 66: 1192–1198.
5. Vigouroux C, Magre J, Vantyghem MC et al: Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. Diabetes 2000; 49: 1958–1962.
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1. Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA;Archives of Endocrinology and Metabolism;2024
2. Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center;International Journal of Molecular Sciences;2023-07-27
3. Regulation of Lipid Metabolism by Lamin in Mutation-Related Diseases;Frontiers in Pharmacology;2022-02-25
4. Approach to the Patient With Lipodystrophy;The Journal of Clinical Endocrinology & Metabolism;2022-02-09
5. Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2021-06
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