Generalized lipodystrophy is characterized by reduction of adipose tissue throughout the body.
Acanthosis nigricans | |
Generalized lipodystrophy is accompanied by acanthosis nigricans. |
1. |
Huseman C et al. (1978) Congenital lipodystrophy: An endocrine study in three siblings. I. Disorders of carbohydrate metabolism. |
2. |
Agarwal AK et al. (2003) Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. |
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Simha V et al. (2003) Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. |
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Ebihara K et al. (2007) Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. |
5. |
Kim CA et al. (2008) Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. |
6. |
Simha V et al. (2008) Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. |
7. |
Liu L et al. (2008) Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance. |
8. |
Hayashi YK et al. (2009) Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. |
9. |
Rajab A et al. (2010) Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. |
10. |
Shastry S et al. (2010) Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. |
11. |
None (1946) Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin. |
12. |
Huseman CA et al. (1979) Congenital lipodystrophy. II. Association with polycystic ovarian disease. |
13. |
Brunzell JD et al. (1968) Congenital generalized lipodystrophy accompanied by cystic angiomatosis. |
14. |
Hamwi GJ et al. (1966) Lipoatrophic diabetes. |
15. |
None (1980) Congenital lipodystrophy. A case report. |
16. |
Oseid S et al. (1977) Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy. |
17. |
None (1993) Percussion myoedema in a Pakistani boy with Berardinelli Seip lipodystrophy syndrome. |
18. |
Seip M et al. (1996) Generalized lipodystrophy, congenital and acquired (lipoatrophy). |
19. |
Uzun O et al. (1997) Congenital total lipodystrophy and peripheral pulmonary artery stenosis. |
20. |
Afifi AK et al. (1976) The myopahtology of congenital generalized lipodystrophy light and electron microscopic observations. |
21. |
None (2004) Acquired and inherited lipodystrophies. |
22. |
Shimomura I et al. (1998) Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. |
23. |
Agarwal AK et al. (2002) AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. |
24. |
Fu M et al. (2004) Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. |
25. |
Magré J et al. (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. |
26. |
Ebihara K et al. (2004) Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. |
27. |
Friguls B et al. () Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. |
28. |
None (1959) Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome? |
29. |
Shimomura I et al. (1999) Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy. |
30. |
Garg A et al. (1999) A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. |
31. |
Rajab A et al. (2002) Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. |
32. |
Van Maldergem L et al. (2002) Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. |
33. |
Rajab A et al. (2003) Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome? |
34. |
None (1961) Lipodystrophic muscular hypertrophy. |
35. |
SEIP M et al. (1963) GENERALIZED LIPODYSTROPHY. |
36. |
REED WB et al. (1965) CONGENITAL LIPODYSTROPHIC DIABETES WITH ACANTHOSIS NIGRICANS: THE SEIP-LAWRENCE SYNDROME. |
37. |
OMIM.ORG article Omim 608594 |
38. |
Orphanet article Orphanet ID 435628 |
39. |
Wikipedia article Wikipedia EN (Congenital_generalized_lipodystrophy) |