Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Partielle Lipodystrophie

Die partielle Lipodystrophie ist durch eine umschriebene Abnahme von Fettgewebe, meist im Gesicht beginnend, charakterisiert.

Gliederung

Lipodystrophie
Generalisierte Lipodystrophie
Partielle Lipodystrophie
Familiäre partielle Lipodystrophie Typ 2
LMNA
Familiäre partielle Lipodystrophie Typ 3
PPARG
Familiäre partielle Lipodystrophie Typ 4
PLIN1
Familiäre partielle Lipodystrophie Typ 5
CIDEC

Referenzen:

1.

Cao H et. al. (2000) Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

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2.

Shackleton S et. al. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

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3.

Speckman RA et. al. (2000) 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.

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4.

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.

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5.

Schmidt HH et. al. (2001) Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.

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6.

Vigouroux C et. al. (2001) Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.

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7.

Caux F et. al. (2003) A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.

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8.

Vigouroux C et. al. (2003) LMNA mutations in atypical Werner's syndrome.

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9.

Lanktree M et. al. (2007) Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).

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10.

Köbberling J et. al. (1975) Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes.

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11.

Davidson MB et. al. (1975) Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities.

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12.

Reardon W et. al. (1990) Partial lipodystrophy syndromes--a further male case.

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13.

None (1988) Banting lecture 1988. Role of insulin resistance in human disease.

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14.

Burn J et. al. (1986) Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).

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15.

Köbberling J et. al. (1986) Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.

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16.

Dunnigan MG et. al. (1974) Familial lipoatrophic diabetes with dominant transmission. A new syndrome.

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17.

Greene ML et. al. (1970) Benign symmetric lipomatosis (Launois-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia.

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18.

Wettke-Schäfer R et. al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males.

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19.

Robbins DC et. al. (1982) Familial partial lipodystrophy: complications of obesity in the non-obese?

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20.

Peters JM et. al. (1998) Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22.

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21.

Jackson SN et. al. (1998) A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.

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22.

Garg A et. al. (1999) Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety).

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23.

Anderson JL et. al. (1999) Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.

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24.

None (2000) Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).

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25.

None (2001) Premature atherosclerosis associated with monogenic insulin resistance.

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26.

None (2004) Acquired and inherited lipodystrophies.

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27.

Spuler S et. al. (2007) Muscle and nerve pathology in Dunnigan familial partial lipodystrophy.

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28.

Vantyghem MC et. al. (2008) Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy.

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29.

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.

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30.

None (1946) Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin.

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31.

Gandotra S et al. (2011) Perilipin deficiency and autosomal dominant partial lipodystrophy.

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32.

Agarwal AK et al. (2002) A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy.

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33.

Hegele RA et al. (2002) PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.

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34.

Savage DB et al. (2003) Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma.

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35.

Barroso I et al. () Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.

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36.

Herbst KL et al. (2003) Köbberling type of familial partial lipodystrophy: an underrecognized syndrome.

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37.

Johansen K et al. (1995) An unusual type of familial lipodystrophy.

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