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Article

Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.

American journal of medical genetics. Part A - 1 Sept 2010

Shastry Savitha, Delgado Mauricio R, Dirik Eray, Turkmen Mehmet, Agarwal Anil K, Garg Abhimanyu

Abstract excerpt

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near total absence of body fat since birth with predisposition to insulin resistance, diabetes, hypertriglyceridemia, and hepatic steatosis. Three CGL loci, AGPAT2, BSCL2, and CAV1, have been identified previously. Recently, mutations in polymerase I and transcript release factor (PTRF) were reported in five...

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Source

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Identifiers

PMID: 20684003
DOI: 10.1002/ajmg.a.33578
PMCID: PMC2930069

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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Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.PMID 20684003Read ↗

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