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Article

Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.

American journal of medical genetics. Part A - 15 Sept 2008

Simha Vinaya, Agarwal Anil K, Aronin Patricia A, Iannaccone Susan T, Garg Abhimanyu

Abstract excerpt

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by extreme paucity of adipose tissue from birth, and early onset of metabolic complications related to insulin resistance. Mutations in three genes, 1-acylglycerol 3-phosphate-O-acyltransferase 2 (AGPAT2), Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2), and Caveolin-1 (CAV1) are associated with the three subtypes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 18698612
DOI: 10.1002/ajmg.a.32457
PMCID: PMC2716114

Genes

AGPAT2
BSCL2
CAV1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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