Die familiäre partielle Lipodystrophie Typ 2 ist eine autosomal dominante Erkrankung, die durch Mutationen des LNMA-Gens hervorgerufen wird.
Acanthosis nigricans | |
Die partielle Lipodystrophie 2 kann von einer Acanthosis nigricans begleitet sein. |
Partielle Lipodystrophie | ||||
Familiäre partielle Lipodystrophie Typ 2 | ||||
LMNA | ||||
Familiäre partielle Lipodystrophie Typ 3 | ||||
Familiäre partielle Lipodystrophie Typ 4 | ||||
Familiäre partielle Lipodystrophie Typ 5 | ||||
1. |
Shackleton S et al. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. |
2. |
None (1946) Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin. |
3. |
Araújo-Vilar D et al. (2009) Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. |
4. |
Vantyghem MC et al. (2008) Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy. |
5. |
Spuler S et al. (2007) Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. |
6. |
None (2004) Acquired and inherited lipodystrophies. |
7. |
None (2001) Premature atherosclerosis associated with monogenic insulin resistance. |
8. |
None (2000) Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). |
9. |
Anderson JL et al. (1999) Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22. |
10. |
Garg A et al. (1999) Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). |
11. |
Jackson SN et al. (1998) A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q. |
12. |
Peters JM et al. (1998) Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. |
13. |
Robbins DC et al. (1982) Familial partial lipodystrophy: complications of obesity in the non-obese? |
14. |
Wettke-Schäfer R et al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males. |
15. |
Greene ML et al. (1970) Benign symmetric lipomatosis (Launois-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia. |
16. |
Köbberling J et al. (1986) Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. |
17. |
Cao H et al. (2000) Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. |
19. |
Garg A et al. (2001) Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. |
20. |
Schmidt HH et al. (2001) Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. |
21. |
Vigouroux C et al. (2001) Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. |
23. |
Vigouroux C et al. (2003) LMNA mutations in atypical Werner's syndrome. |
24. |
Lanktree M et al. (2007) Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). |
25. |
Köbberling J et al. (1975) Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. |
26. |
Davidson MB et al. (1975) Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities. |
27. |
Reardon W et al. (1990) Partial lipodystrophy syndromes--a further male case. |
28. |
None (1988) Banting lecture 1988. Role of insulin resistance in human disease. |
29. |
Burn J et al. (1986) Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome). |
30. |
Dunnigan MG et al. (1974) Familial lipoatrophic diabetes with dominant transmission. A new syndrome. |
31. |
Orphanet article Orphanet ID 2348 |
32. |
OMIM.ORG article Omim 151660 |