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Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.
Shastry S, Delgado MR, Dirik E, Turkmen M, Agarwal AK, Garg A. Shastry S, et al. Am J Med Genet A. 2010 Sep;152A(9):2245-53. doi: 10.1002/ajmg.a.33578. Am J Med Genet A. 2010. PMID: 20684003 Free PMC article.
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. ...In conclusion, m
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near total absence o
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
Rajab A, Straub V, McCann LJ, Seelow D, Varon R, Barresi R, Schulze A, Lucke B, Lützkendorf S, Karbasiyan M, Bachmann S, Spuler S, Schuelke M. Rajab A, et al. PLoS Genet. 2010 Mar 12;6(3):e1000874. doi: 10.1371/journal.pgen.1000874. PLoS Genet. 2010. PMID: 20300641 Free PMC article.
We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4) of whom five members had died from sudden cardiac death during their teenage years. ECG studies revealed features of long-QT syndrome, bradycardia, as we …
We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4) of whom five members …
Anesthesia for patients with PTRF mutations: a case report.
Hirano A, Takada T, Senda M, Takahashi H, Suzuki T. Hirano A, et al. JA Clin Rep. 2018;4(1):11. doi: 10.1186/s40981-017-0139-9. Epub 2018 Jan 25. JA Clin Rep. 2018. PMID: 29457121 Free PMC article.
BACKGROUND: Polymeraze I and transcript release factor (PTRF) mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy. CASE PRESENTATION: A 29-year-old man (height 126 cm; weight 22 kg) with a PTRF m …
BACKGROUND: Polymeraze I and transcript release factor (PTRF) mutations are a newly recognized disease, which cause congenital gen
PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis.
Taniguchi T, Maruyama N, Ogata T, Kasahara T, Nakanishi N, Miyagawa K, Naito D, Hamaoka T, Nishi M, Matoba S, Ueyama T. Taniguchi T, et al. PLoS One. 2016 Sep 9;11(9):e0162513. doi: 10.1371/journal.pone.0162513. eCollection 2016. PLoS One. 2016. PMID: 27612189 Free PMC article.
Mutations in the PTRF/Cavin-1 gene cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. Additionally, long-QT syndrome and fatal cardiac arrhythmia are observed in patients with CGL4 who have homozygous PTRF/Cavin-1 mutati …
Mutations in the PTRF/Cavin-1 gene cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. A …
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