PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis

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 mutations. PTRF/Cavin-1 deficiency shows reductions of...

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Publicat a:PLoS One
Autors principals: Taniguchi, Takuya, Maruyama, Naoki, Ogata, Takehiro, Kasahara, Takeru, Nakanishi, Naohiko, Miyagawa, Kotaro, Naito, Daisuke, Hamaoka, Tetsuro, Nishi, Masahiro, Matoba, Satoaki, Ueyama, Tomomi
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2016
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5017623/
https://ncbi.nlm.nih.gov/pubmed/27612189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0162513
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