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Items: 4

1.

Anesthesia for patients with PTRF mutations: a case report.

Hirano A, Takada T, Senda M, Takahashi H, Suzuki T.

JA Clin Rep. 2018;4(1):11. doi: 10.1186/s40981-017-0139-9. Epub 2018 Jan 25.

2.

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.

PLoS One. 2016 Sep 9;11(9):e0162513. doi: 10.1371/journal.pone.0162513. eCollection 2016.

3.

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.

Am J Med Genet A. 2010 Sep;152A(9):2245-53. doi: 10.1002/ajmg.a.33578.

4.

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, L├╝tzkendorf S, Karbasiyan M, Bachmann S, Spuler S, Schuelke M.

PLoS Genet. 2010 Mar 12;6(3):e1000874. doi: 10.1371/journal.pgen.1000874.

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