Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Generalisierte Lipodystrophie

Die generalisierte Lipodystrophie ist durch eine Abnahme von Fettgewebe am ganzen Körper charakterisiert.

Symptome

Acanthosis nigricans
Die generalisierte Lipodystrophie kann von einer Acanthosis nigricans begleitet sein.

Gliederung

Lipodystrophie
Generalisierte Lipodystrophie
Generalisierte Lipodystrophie Typ 1
AGPAT2
Kongenitale progressive Lipodystrophie Typ 2
BSCL2
Partielle Lipodystrophie

Referenzen:

1.

None (2004) Acquired and inherited lipodystrophies.

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2.

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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3.

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4.

Agarwal AK et al. (2002) AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

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5.

Fu M et al. (2004) Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.

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6.

Magré J et al. (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

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7.

Ebihara K et al. (2004) Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.

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9.

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10.

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11.

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12.

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21.

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22.

Kim CA et al. (2008) Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

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23.

Simha V et al. (2008) Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.

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24.

Liu L et al. (2008) Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance.

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25.

Hayashi YK et al. (2009) Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

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26.

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.

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30.

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31.

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32.

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33.

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34.

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35.

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36.

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