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Article

[Congenital generalized lipodystrophy: a case report with neurological involvement].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jan 2009

Ben Turkia H, Tebib N, Azzouz H, Abdelmoula M Slim, Ben Chehida A, Hubert P, Douira W, Ben Dridi M F

Abstract excerpt

Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by near complete absence of adipose tissue from birth. At least 2 genes located in 9q34 (AGPAT2) and 11q13 (Seipin) are implicated in type 1 and 2, respectively, and result in insulin resistance. We report here a novel case of CGL type 1 resulting from a novel homozygote mutation in the AGPAT2 gene. The clinical picture included...

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Source

Identifiers

PMID: 19026526
DOI: 10.1016/j.arcped.2008.10.005

Genes

AGPAT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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